I. Introduction

From the Johns Hopkins Children's Center, this booklet is designed to help parents and patients understand intersexuality and the challenges that accompany syndromes of "abnormal" sex differentiation.

Sexual differentiation is a complex process which results in a newborn baby who is either male or female. If errors in development occur, sexual development is abnormal and the sex organs of the baby are malformed. In such cases, individuals may develop both male and female characteristics. This is referred to as intersexuality.

Children born with deviations from normal development of the sex organs can be expected to grow up successfully and to lead enriched lives. However, their problems must be considered carefully. In cases of abnormal sex differentiation, efforts should be made to determine the reason for the abnormality as treatment may vary according to the cause of the disorder. There may also be a need for specific surgical repair and/or hormonal therapy. Finally, it is extremely important for parents and patients to have a good understanding of both the condition of sex differentiation that affects them, as well as possible ways for dealing with the condition. With this approach, patients will be better able to lead a fulfilled life, and to look forward to an education, career, marriage, and parenthood.

This booklet has been prepared to help parents and patients better understand intersexuality and the unique challenges that accompany syndromes of abnormal sex differentiation. We believe that informed individuals are better prepared to face these challenges and are more likely to meet successfully the demands of childhood, adolescence, and adulthood.

First, normal sex differentiation will be described. The understanding of this pattern of development will help patients and their families to understand the problems of ambiguous sex differentiation, which are subsequently outlined. Finally, a glossary of terms and a list of helpful support groups are provided.

II. Normal Sex Differentiation

Human sexual differentiation is a complicated process. In a simple manner, one can describe four major steps which constitute normal sexual differentiation. These four steps are:

1. Fertilization and determination of genetic sex
2. Formation of organs common to both sexes
3. Gonadal differentiation
4. Differentiation of the internal ducts and external genitalia

Step 1: Fertilization and Determination of Genetic Sex

The first step of sex differentiation takes place at fertilization. An egg from the mother, which contains 23 chromosomes (including an X chromosome), is combined with a sperm from the father, which also contains 23 chromosomes (including either an X or Y chromosome). Therefore, the fertilized egg has either a 46,XX (genetic female) or 46,XY (genetic male) karyotype.

Step 1 in sex differentiation: Determination of genetic sex

Egg (23,X) + Sperm (23,X)=46,XX genetic girl

OR

Egg (23,X) + Sperm (23, Y)=46, XY genetic boy

Step 2: Formation of Organs Common to Both Sexes

The fertilized egg multiplies to form a large number of cells, all of which are similar to each other. However, at specific times during the growth of an embryo, the cells differentiate to form the various organs of the body. Included in this development is the differentiation of the sex organs. At that stage, both 46,XX and 46,XY fetuses have similar sex organs, specifically:

1. the gonadal ridges
2. the internal ducts
3. the external genitalia

a. The gonadal ridges can be easily recognized by 4-5 weeks of gestation. At that time, they already include the undifferentiated germ cells which will later develop into either eggs or sperm. The formation of gonadal ridges similar in both sexes is a prerequisite step to the development of differentiated gonads. This organization of cells into a ridge requires the effects of several genes, such as SF-1, DAX-1, SOX-9, etc. If any one of these genes is non-functional, then there is no formation of a gonadal ridge and therefore no formation of either testes or ovaries.

b. By 6-7 weeks of fetal life, fetuses of both sexes have two sets of internal ducts, the Mullerian (female) ducts and the Wolffian (male) ducts.

c. The external genitalia at 6-7 weeks gestation appear female and include a genital tubercle, the genital folds, urethral folds and a urogenital opening. (see Figure 2)

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Step 3: Gonadal Differentiation

The important event in gonadal differentiation is the commitment of the gonadal ridge to become either an ovary or a testis.

a. In males, the gonadal ridge develops into testes as a result of a product from a gene located on the Y chromosome. This product has been termed the "testis determining factor" or "sex determining region of the Y chromosome" (SRY).

b. In females, the absence of SRY, due to the absence of a Y chromosome, permits the expression of other genes which will trigger the gonadal ridge to develop into ovaries.

Step 3 in Sex Differentiation: Determination of Gonadal Sex

XX fetus=ovary
(with no SRY)

OR

XY fetus=testes
(with SRY located on the Y chromosome)

Step 4: Differentiation of the Internal Ducts and External Genitalia

The next step in sex differentiation depends upon the formation of two important hormones: the secretion of Mullerian (female) Inhibiting Substance (MIS) and the secretion of androgens.

If testes are developing normally, then Sertoli cells of the developing testes produce MIS which inhibits the growth of the female Mullerian ducts (the uterus and fallopian tubes) which are present in all fetuses early in development. Additionally, the Leydig cells of the testes start secreting androgens. Androgens are hormones that produce growth effects on the male Wolffian ducts (the epididymis, vas deferens, seminal vesicles) which are also present in all fetuses early in development.

Unlike the testes, the ovaries do not produce androgens. As a result, the Wolffian ducts fail to grow and consequently disappear in fetuses with ovarian development. In addition, the ovaries do not produce MIS at the appropriate time, and as a consequence, the Mullerian (female) ducts can develop.

In other words, two products of the developing testes are needed for normal male development. First, MIS must be secreted to inhibit female duct growth and androgens must be secreted to enhance male duct growth. In contrast, a female fetus with no developing testes will produce neither MIS nor androgens, and hence female ducts will develop and male ducts will disappear.

Step 4 in Sex Differentiation: Determination of Internal Ducts

Males
Testes produce MIS=inhibit female development
Testes produce androgens=enhance male development

OR

Females
Ovaries do not produce MIS=enhance female development
Ovaries do not produce androgens=inhibit male development

External Genitalia

In the female, absence of androgens permits the external genitalia to remain feminine: the genital tubercle becomes the clitoris, the genital swellings become the labia majora and the genital folds become the labia minora.

In the male, fetal androgens from the testes masculinize the external genitalia. The genital tubercle grows to become the penis and the genital swellings fuse to form the scrotum. The following diagrams illustrate each of these processes.

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Figure 1

Figure 2

 

Figure 3

 

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Summary of Normal Sex Differentiation

• genetic sex is determined
• testes develop in XY fetus, ovaries develop in XX fetus
• XY fetus produces MIS and androgens and XX fetus does not
• XY fetus develops Wolffian ducts and XX fetus develops Mullerian ducts
• XY fetus masculinizes the female genitalia to make it male and the XX fetus retains female genitalia

III. Disorders of Sex Differentiation - A General Outline

Sex differentiation is a complex physiological process comprised of many steps. Problems associated with sex differentiation, or syndromes of intersexuality, occur when errors in development take place at any
of these steps.

Genetic Sex

Problems can arise at fertilization when chromosomal sex is established. For example, girls with Turner Syndrome have a 45,XO karyotype and boys with Klinefelter Syndrome have a 47,XXY karyotype. It is also known that some women have a 46,XY or 47,XXX karyotype and some men a 46,XX or 47,XYY karyotype. Clearly then, when it is stated that 46,XY refers to male sex and 46,XX refers to female sex, this is a generalization which applies to most, but not all, individuals.

Gonadal Sex

Disorders of sex differentiation can occur when a bipotential gonad is incapable of developing into a testis or an ovary. The inability to develop testes may occur if a gene such as SRY is absent or deficient. When this is the case, a 46,XY fetus will not receive the SRY signal to develop testes despite the presence of a Y chromosome. Additionally, 46,XY fetuses may begin to develop testes, but this development can be thwarted, and subsequently MIS and androgen production may be absent or diminished.

Finally, the normal disappearance of germ cells associated with ovarian development in fetuses is so accelerated in Turner Syndrome that by birth these babies possess gonadal streaks as opposed to normal ovaries.

Mullerian and Wolffian Duct Development

Intersexuality can also result as a consequence of problems related to Mullerian or Wolffian duct development. For example, MIS secretion accompanied by the absence of androgens or the inability to respond to androgens can result in a fetus lacking both male and female internal duct structures. In contrast, the absence of MIS accompanied by androgen secretion can result in a fetus possessing both male and female internal duct structures to varying degrees.

External Genitalia

Babies born with sex differentiation syndromes possess external genitalia that can usually be classified as either:

1. normal female
2. ambiguous
3. normal male but with a very small penis (micropenis)

Normal female external genitalia develop among 46,XY intersex patients when the genital tubercle, genital swellings, and genital folds either completely lack exposure to, or are totally incapable of responding to, male hormones. As a result, masculinization of the external genital structures is not possible. In such cases, the genital tubercle develops into a clitoris, the genital swellings develop into the labia majora and the genital folds develop into the labia minora.

Ambiguous external genitalia develop in female patients when the external genital structures are exposed to greater-than-normal amounts of male hormones (masculinized females) or in male patients when less-than-normal amounts of male hormones (under-masculinized males) occurs. Thus, in these patients, external genitalia develop in a manner that is neither female nor male, but rather is somewhere in between the two.

For instance, patients with ambiguous external genitalia may possess a phallus which ranges in size from resembling a large clitoris to a small penis. Additionally, these patients may possess a structure that resembles partially fused labia or a split scrotum. Finally, patients with ambiguous external genitalia often possess a urethral (urinary) opening that is not at the tip of the phallus (normal male position), but is instead located elsewhere on the phallus or perineum. The atypical positioning of the urethra in such instances is referred to as hypospadius.

Babies born with a penis that is much smaller than normal (micropenis) have a completely normal appearing external genitalia (i.e)., the urethra is properly located at the tip of the phallus and the scrotum is completely fused). However, the size of the phallus is closer to that of a normal clitoris than a normal penis.

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IV. Specific Syndromes of Sex Differentiation

1. Androgen Insensitivity Syndrome (AIS)

Androgen Insensitivity Syndrome occurs when an individual, due to a mutation of the androgen receptor gene, is incapable of responding to androgens. Two forms of AIS exist, Complete AIS (CAIS) and Partial AIS (PAIS).

CAIS

CAIS affects 46,XY individuals. CAIS patients have normal appearing female external genitalia due to the their complete inability to respond to androgens. This is because the genital tubercle, genital swellings, and genital folds can not masculinize in these patients despite the presence of functional testes located in the abdomen. Similarly, Wolffian duct development does not occur because the Wolffian duct structures can not respond to androgens produced by CAIS patients. Mullerian duct development is inhibited in CAIS individuals because MIS is secreted by the testes.

In addition to possessing normal female external genitalia, CAIS individuals also experience normal female breast development along with sparse pubic and axillary hair growth at puberty. The following chart illustrates the steps of sex differentiation associated with CAIS compared to those of unaffected males and females.

Normal Female Development	CAIS Development	Normal Male Development
XX	XY	XY
ovaries develop	testes develop	testes develop
no androgen produced	androgen produced, but body can not respond	androgen produced
Wolffian Ducts regress	Wolffian Ducts regress	Wolffian Ducts develop
no MIS produced	MIS produced	MIS produced
Mullerian Ducts develop	Mullerian Ducts do not develop	Mullerian Ducts do not develop
external genitalia are female	external genitalia are female	external genitalia are male
feminizing puberty	feminizing puberty without menses	masculinizing puberty

PAIS

PAIS also affects 46,XY individuals. PAIS patients are born with ambiguous external genitalia due to their partial inability to respond to androgens. The genital tubercle is larger than a clitoris but smaller than a penis, a partially fused labia/scrotum may be present, the testes may be undescended, and perineal hypospadius is often present. Wolffian duct development is minimal or nonexistent and the Mullerian duct system does not develop properly.

PAIS patients will experience normal female breast development at puberty, along with a small amount of pubic and axillary hair. The chart on the following page illustrates the steps of sex differentiation associated with PAIS compared to those of unaffected males and females.

Normal Female Development	PAIS Development	Normal Male Development
XX	XY	XY
ovaries develop	testes develop	testes develop
no androgen produced	androgen produced, but body partially unresponsive	androgen produced
Wolffian Ducts regress	Wolffian Ducts develop minimally	Wolffian Ducts develop
no MIS produced	MIS produced	MIS produced
Mullerian Ducts develop	Mullerian Ducts do not develop	Mullerian Ducts do not develop
external genitals are female	external genitalia are ambiguous	external genitalia are male
feminizing puberty	partial masculinizing puberty with testosterone therapy OR feminizing puberty with estrogen therapy	masculinizing puberty

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2. Gonadal Dysgenesis

Unlike AIS in which affected individuals possess functioning testes but can not respond to the androgens their testes produce, patients with Gonadal Dysgenesis can respond to androgens but develop abnormal testes which are incapable of producing androgens. Like AIS, two forms of Gonadal Dysgenesis exist (Complete and Partial).

Complete Gonadal Dysgenesis

Complete Gonadal Dysgenesis affects 46,XY individuals and is characterized by abnormally formed gonads which were originally on the path to testis differentiation (these abnormally formed gonads are referred to as gonadal streaks), female external genitalia, Mullerian duct development, and Wolffian duct regression. Female external genitalia develop due to the failure of the gonadal streaks to produce androgens necessary to masculinize the genital turbercle, genital swellings, and genital folds. Additionally, because the gonadal streaks are incapable of producing either androgens or MIS, the Wolffian duct system regresses while the Mullerian duct system develops. The following chart illustrates the steps of sex differentiation associated with Complete Gonadal Dysgenesis compared to those of unaffected males and females.

Normal Female Development	Complete Gonadal Dysgenesis	Normal Male Development
XX	XY	XY
ovaries develop	streak gonads	testes develop
no androgen produced	no androgen produced	androgen produced
Wolffian Ducts regress	Wolffian Ducts regress	Wolffian Ducts develop
no MIS produced	no MIS produced	MIS produced
Mullerian Ducts develop	Mullerian Ducts develop	Mullerian Ducts regress
external genitalia are female	external genitalia are female	external genitalia are male
feminizing puberty	feminizing puberty with estrogen therapy	masculinizing puberty

Partial Gonadal Dysgenesis

Partial Gonadal Dysgenesis also affects 46,XY individuals, and this condition is characterized by partial testes determination usually accompanied by ambiguous external genitalia at birth. Affected patients may have a combination of Wolffian and Mullerian duct development. The combination of both Wolffian and Mullerian duct development, along with ambiguity of the external structures, indicates that the testes produced more androgens and MIS than those of Complete Gonadal Dysgenesis patients, but not as much as would be seen in normal male development. The chart on the following page illustrates the steps of sex differentiation associated with Partial Gonadal Dysgenesis compared to those of unaffected males and females.

Normal Female Development	Partial Gonadal Dysgenesis	Normal Male Development
XX	XY	XY
ovaries develop	partial testes determination	testes develop
no androgen produced	variable amount of androgen produced	androgen produced
Wolffian Ducts regress	some Wolffian Duct development	Wolffian Ducts develop
no MIS production	variable amount of MIS production	MIS production
Mullerian Ducts develop	some Mullerian Duct development	Mullerian Ducts do not develop
external genitalia are female	ambiguous external genitalia	external genitalia are male
feminizing puberty	feminizing puberty with estrogen therapy OR masculinizing puberty with testosterone therapy	masculinizing puberty

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3. 5-Reductase Deficiency

During fetal development, the genital tubercle, genital swellings, and genital folds masculinize when exposed to androgens. Androgens, or male hormones, are a general term for two specific hormones Ñ testosterone and dihydrotestosterone (DHT). DHT is a stronger androgen than testosterone, and DHT is formed when the enzyme 5-Reductase converts testosterone to DHT.

5- reductase enzyme

Testosterone -----------a Dihydrotestosterone

5-Reductase deficiency affects 46,XY individuals. During fetal development, the gonads differentiate into nomal testes, secrete appropriate amounts of testosterone, and patients are able to respond to this testosterone. However, affected individuals are unable to convert testosterone to DHT , and DHT is necessary for the external genitalia to masculinize normally. The result is a newborn baby with functioning testes, normally developed Wolffian ducts, no Mullerian ducts, a penis resembling a clitoris, and a
scrotum resembling labia majora.

At puberty, testosterone (not DHT), is the essential androgen for masculinization of the external genitalia. Therefore, stereotypical signs of masculine pubertal development will be observed in patients. These signs include an increase in muscle mass, lowering of the voice, growth of the penis (although it is unlikely that it will reach a normal male length), and sperm production if the testes remain intact. These patients have a fair amount of pubic or axillary hair growth, but they have little or no facial hair. They do not experience female breast development. The following chart illustrates the steps of sex differentiation associated with 5-Reductase Deficiency compared to those of unaffected males and females.

Normal Female Development	5-Reductase Deficiency	Normal Male Development
XX	XY	XY
ovaries develop	testes develop	testes develop
no androgen produced	testosterone but no DHT produced	androgen produced
Wolffian Ducts regress	Wolffian Ducts develop	Wolffian Ducts develop
no MIS produced	MIS produced	MIS produced
Mullerian Ducts develop	Mullerian Ducts regress	Mullerian Ducts regress
external genitalia are female	ambiguous external genitalia	external genitalia are male
feminizing puberty	testes left intact, partial masculinizing puberty OR feminizing puberty with removal of testes and estrogen therapy	masculinizing puberty

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4. Testosterone Biosynthetic Defects

Testosterone is produced from cholesterol through a number of biochemical conversions. In some individuals, one of the enzymes needed for these conversions is deficient. In such cases, patients are unable to make normal amounts of testosterone despite the presence of testes. Testosterone Biosynthetic Defects affect 46,XY individuals and can be complete or partial, which leads to newborns who appear either completely female or ambiguous, respectively. Four Testosterone Biosynthetic Defects are
listed below:

1. Cytochrome P450,CYP11A Deficiency
2. 3B-Hydroxysteroid Dehydrogenase Deficiency
3. Cytochrome P450,CYP17 Deficiency
4. 17-Ketosteroid Reductase Deficiency

The first three enzyme deficiencies listed above result in Congenital Adrenal Hyperplasia (CAH) (described later) as well as decreased testosterone production by the testes. The fourth enzyme, 17-Ketosteroid Reductase Deficiency, is not associated with CAH. The following chart illustrates the steps of sex differentiation associated with Testosterone Biosynthetic Defects compared to those of unaffected males and females.

Complete Biosynthetic Defect

Normal Female Development	Complete Testosterone Biosynthetic Defect	Normal Male Development
XX	XY	XY
ovaries develop	testes develop	testes develop
no androgen produced	no androgens due to enzyme deficiency	androgen produced
Wolffian Ducts regress	Wolffian Ducts regress	Wolffian Ducts develop
no MIS is produced	MIS is produced	MIS is produced
Mullerian Ducts develop	Mullerian Ducts regress	Mullerian Ducts regress
external genitalia are female	external genitalia are female	external genitalia are male
feminizing puberty	feminizing puberty if given estrogen therapy	masculinizing puberty

Partial Biosynthetic Defect

Normal Female Development	Partial Testosterone Biosynthetic Defect	Normal Male Development
XX	XY	XY
ovaries develop	testes develop	testes develop
no androgen produced	partial production of androgens	androgen produced
Wolffian Ducts regress	some Wolffian Duct development	Wolffian Ducts develop
no MIS produced	MIS produced	MIS produced
Mullerian Ducts develop	Mullerian Ducts regress	Mullerian Ducts regress
external genitalia are female	ambiguous external genitalia	external genitalia are male
feminizing puberty	partial masculinizing puberty with testosterone therapy OR feminizing puberty with estrogen therapy	masculinizing puberty

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5. Micropenis

Androgens are necessary at two different points in fetal development for a normal penis to form: (1) early in fetal life to masculinize the genital tubercle, genital swellings, and genital folds into a penis and scrotum, and (2) later in fetal life to enlarge the penis. Individuals with a micropenis possess a normally developed penis, except that the penis is extremely small. The condition of micropenis is thought to occur in 46,XY individuals if androgen production is insufficient for penile growth after the first part of masculinization of the external genitalia has already occurred. The chart on the following page illustrates the steps of sex differentiation associated with micropenis compared to those of unaffected males and females.

Normal Female Development	Micropenis	Normal Male Development
XX	XY
ovaries develop	testes develop	testes develop
no androgen produced	androgens early in fetal life, deficient later in fetal life	androgen produced
Wolffian Ducts regress	Wolffian Ducts develop	Wolffian Ducts develop
no MIS produced	MIS produced	MIS produced
Mullerian Ducts develop	Mullerian Ducts regress	Mullerian Ducts regress
external genitalia are female	micropenis	external genitalia are male
feminizing puberty	partially masculinizing puberty if exposed to testosterone OR feminizing puberty if given estrogen therapy	masculinizing puberty

6. Timing Defect

The many steps of sex differentiation are further complicated by the fact that proper timing of these steps is necessary for normal development. If all of the steps required for male sex differentiation are working, yet these steps are delayed by even a few weeks, the result can be ambiguous differentiation of the external genitalia in a 46,XY individual. The following chart illustrates the steps of sex differentiation associated with a Timing Defect compared to those of normal males

Normal Female Development	Timing Defect	Normal Male Development
XX	XY	XY
ovaries develop	testes develop	testes develop
no androgen produced	androgen produced at incorrect time	androgen produced
Wolffian Ducts regress	Wolffian Ducts develop	Wolffian Ducts develop
no MIS produced	MIS produced	MIS produced
Mullerian Ducts develop	Mullerian Ducts regress	Mullerian Ducts regress
external genitalia are female	external genitalia range from female to ambiguous	external genitalia are male
feminizing puberty	partially masculinizing puberty with testosterone therapy OR feminizing puberty with estrogen therapy	masculinizing puberty

 

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7. Congenital Adrenal Hyperplasia (CAH) in 46,XX Individals

In CAH excess adrenal androgens are produced as an indirect result of a cortisol biosynthetic defect (by far the most frequent defect is a cytochrome P450,CYP21 deficiency). In 46,XX individuals, excess adrenal androgens can lead to ambiguous development of the external genitalia, so that these babies have an enlarged clitoris and a fused labia which resembles a scrotum. The chart on the following page illustrates the steps of sexual differentiation associated with 46,XX CAH (21-hydroxylase deficiency) individuals compared to those of unaffected males and females.

Normal Female Development	46,XX CAH	Normal Male Development
XX	XX	XY
ovaries develop	ovaries develop	testes develop
no androgen produced	no testicular androgens but excessive adrenal androgens produced	androgen produced
Wolffian Ducts regress	Wolffian Ducts regress	Wolffian Ducts develop
no MIS produced	no MIS produced
Mullerian Ducts develop	Mullerian Ducts develop	Mullerian Ducts regress
external genitalia are female	ambiguous external genitalia	external genitalia are male
feminizing puberty	feminizing puberty if treated with cortisol	masculinizing puberty

 

8. Klinefelter Syndrome

Klinefelter Syndrome is the term given to individuals with a 47,XXY karyotype. At puberty Klinefelter men can experience female breast growth, low androgen production, small testes, and decreased sperm production. Additionally, although Klinefelter men undergo normal male differentiation of the external genitalia, they often possess a penis that is smaller than that of normal men. The following chart illustrates the steps of sexual differentiation associated with individuals who have Klinefelter Syndrome, compared to those of unaffected males and females.

Normal Female Development	Klinefelter Syndrome	Normal Male Development
XX	XXY	XY
ovaries develop	small testes at puberty	testes develop
no androgen produced	often decreased androgen production	androgen produced
Wolffian Ducts regress	Wolffian Ducts develop	Wolffian Ducts develop
no MIS produced	MIS produced	MIS produced
Mullerian Ducts develop	Mullerian Ducts regress	Mullerian Ducts regress
external genitalia are female	male external genitalia with small penis	external genitalia are male
feminizing puberty	masculinizing puberty with possible decreased androgen production	masculinizing puberty

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9. Turner Syndrome

Turner Syndrome is the term given to individuals with a 45,XO karyotype. Turner patients can exhibit webbing of the neck, a broad chest, horseshoe kidneys, cardiovascular abnormalities, and short stature. Turner patients do not possess ovaries, but instead possess gonadal streaks. Turner patients have normal female external genitalia, but because they lack functioning ovaries (and thus the estrogens produced by ovaries) neither breast development, nor menstruation occurs spontaneously at puberty. The following chart illustrates the steps of sexual differentiation associated with Turner Syndrome compared to those of unaffected males and females.

Normal Female Development	Turner Syndrome	Normal Male Development
XX	XO	XY
ovaries develop	gonadal streaks develop	testes develop
no androgen produced	no androgen produced	androgen produced
Wolffian Ducts regress	Wolffian Ducts regress	Wolffian Ducts develop
no MIS produced	no MIS produced	MIS produced
Mullerian Ducts develop	Mullerian Ducts develop	Mullerian Ducts regress
external genitalia are female	external genitalia are female	external genitalia are male
feminizing puberty	feminizing puberty with estrogen therapy	masculinizing puberty

10. 45,XO/46,XY Mosaicism

Individuals born with 45,XO/46,XY Mosaicism can appear male, female, or ambiguous at birth. Males experience normal male sex differentiation and females are essentially identical to girls born with Turner Syndrome. For the purpose of this booklet, only patients with 45,XO/46,XY Mosaicism, who experience ambiguous sex differentiation, will be described on the following chart.

Mosaicism means that two or more sets of chromosomes influence the development of an individual. 45,XO/46,XY Mosaicism represents the most common mosaic condition involving the Y chromosome. Because the Y chromosome is affected, abnormal sex differentiation can result from this condition. The following chart illustrates the steps of sex differentiation associated with 45,XO/46,XY Mosaicism compared to those of unaffected males and females.

Normal Female Development	45,XO/46,XY Mosaicism	Normal Male Development
XX	XY	XY
ovaries develop	partial testes determination	testes develop
no androgen produced	variable amount of androgen produced	androgen produced
Wolffian Ducts regress	some Wolffian Duct development	Wolffian Ducts develop
no MIS production		MIS production
Mullerian Ducts develop	some Mullerian Duct development	Mullerian Ducts do not develop
external genitalia are female	ambiguous external genitalia	external genitalia are male
feminizing puberty	feminizing puberty with estrogen therapy OR masculinizing puberty with testosterone therapy	masculinizing puberty

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V. Summary

Sexual differentiation refers to the physiological development of a fetus along male or female lines. Disorders of sexual differentiation, or syndromes of intersexuality, result when errors occur at any of these steps. This booklet is organized to serve as a basic explanation of the process of normal sexual differentiation, and it is also meant to explain the deviations from normal development underlying several syndromes of sexual differentiation.

Endocrine Treatment

1. What is the procedure for identifying and treating intersex syndromes in newborns?

When a child with an intersex syndrome also has ambiguous (undifferentiated) external genitalia, the syndrome is usually identified at birth. We recommend that a team consisting of a pediatric endocrinologist, gynecologist, urologist, geneticist and psychologist experienced in dealing with intersex conditions work together to treat these children.

Although difficult for parents, it is important not to assign a sex to an affected newborn until after proper diagnosis is agreed upon by the parents and team of doctors. We think this because it is more difficult for families to reassign a baby's sex than to postpone an initial assignment until after a diagnosis is agreed upon.

The examinations and laboratory tests necessary for attempting to establish a diagnosis may take several days. During that time, we advise parents to report to well-wishers that the infant was born with incompletely developed genitalia, and that it may take several days before the sex of the baby can be determined.

Until a diagnosis is made, it is important to use neutral terms such as baby, gonad and phallus instead of sex-specific terms like boy or girl, testes or ovaries and penis or clitoris. By using neutral terms, it is easier for families to adopt the appropriate sex of assignment for the child after a diagnosis has been made.

The following chart shows the recommended schedule for diagnostic tests and examinations for establishing a diagnosis as quickly and as accurately as possible.

Each day, weigh infant and check levels of serum electrolytes and blood glucose

• Day 1: karyotype
• Day 2: plasma testosterone, dihydrotestosterone,androstenedione
• Day 3: plasma 17-hydroxyprogesterone, 17-hydroxypregnenolone, androstenedione
• Day 4: sonogram for gonads and uterus, genitogram with or without IVP
• Day 5:repeat plasma 17-hydroxyprogesterone, 17 hydroxypregnenolone, androstenedione

The karyotype determines if a child is 46,XX, 46,XY, or a variant of the two. Androgens should be measured on Day 2 because the concentrations of these hormones decrease after that time. 17-hydroxyprogesterone, progesterone and androstenedione may be elevated after birth, but by Day 3 it is possible to detect abnormal concentrations of these hormones. Both a sonogram and genitogram allow physicians to determine which parts of the Mullerian and Wolffian duct system are present, and where they are located. In some cases, a stimulation test with human chorionic gonadotropin (HCG) is used to determine the nature of steroid secretion of the gonads, particularly if the exam is after 3 months of age. Studies on Day 5 will confirm values obtained on previous days. Finally, it is extremely important to closely monitor weight, serum electrolytes and blood glucose levels to assure that the newborn will not experience an adrenal crisis, a common occurrence in some syndromes of sex differentiation.

2. What is the procedure for identifying and treating intersex syndromes in older children?

While we recommend that sex assignment be postponed until after a diagnosis is made for a newborn with an intersex syndrome, older infants or children will have already lived as either a boy or girl regardless of diagnosis. In such instances, it is usually best to continue with the original sex assignment because such a change is often unsuccessful if it occurs after the first 18 months of life. We feel that sex reassignment within the first month of life is most likely to be successful if such a change is determined necessary by parents and doctors. For most older children, a reassignment should only be considered if desired by the child.

After 3 months of age and before puberty, one often uses an HCG test to determine if the gonad can secrete androgens. This is accomplished by administering a series of injections of human chorionic gonadotropin (HCG).

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3. What are the goals of endocrine treatment for intersex patients ?

For patients raised as males, the goals of endocrine treatment are to encourage masculine development, and correspondingly suppress feminine development, of sexual characteristics. For example, increased penile size, hair distribution and body mass can be accomplished for some individuals through the use of testosterone treatment.

For patients raised as females, the goals of treatment are to simultaneously encourage feminine development and discourage masculine development of sexual characteristics. For example, breast development and menstruation can occur for some individuals following estrogen treatment.

In addition to sex hormones, patients with Congenital Adrenal Hyperplasia may also take glucocorticoids and salt-retaining hormones. Glucocorticoids can help these patients maintain appropriate reactions to physical stress as well as suppress unwanted masculine sexual development in female patients.

4. How long do patients need to take their hormone treatments?

Sex hormone therapy is usually initiated at puberty and glucocorticoids are administered when appropriate much earlier, usually at the time of diagnosis. Whether patients take male hormones, female hormones or glucocorticoids, it is important to continue with these medications throughout life. For example, male hormones are needed in adulthood to maintain masculine sexual characteristics, female hormones to protect against osteoporosis and cardiovascular disease, and glucocorticoids to protect against hypoglycemia and stress-related illnesses.

Surgical Treatment

1. What is the goal of reconstructive female genital surgery?

The goal of reconstructive female genital surgery is to have external feminine genitalia which look as normal as possible and will be correct for sexual function. The first step is to reduce the size of the markedly enlarged clitoris while preserving the nerve supply to the clitoris, and to place it in the normal female hidden position. The second step is to exteriorize the vagina so that it comes to the outside of the body in the area just below the clitoris.

The first step is usually more appropriate early in life. The second step is probably more successful when the patient is ready to start her sex life.

2. What are the goals of reconstructive male genital surgery?

The major goals are to straighten the penis, and to move the urethra from wherever it lies to the tip of the penis. This can be done in one step. However, in many cases, it will take more than one step particularly if the amount of available skin is limited, the curvature of the penis is marked, and the overall condition is severe.

3. What are the pros and cons of early surgery vs. late surgery in the male sex of rearing?

As far as male sex of rearing is concerned, early surgery can be performed easily between the ages of 6 months and 11/2 years. Generally speaking, it is better to try to obtain full correction of the genitalia before the child is two years of age, when he will be less aware of the problems related to surgery.

Late surgery in males would be defined after two years of age. Most male surgery should be performed early in life and should not be postponed until adolescence.

4. What are the pros and cons of early surgery vs. late surgery in the female sex of rearing?

As far as female sex of rearing is concerned, when the vaginal opening is easily reached and the clitoris is not markedly enlarged, exteriorization of the vagina without clitoral correction can be done early in life. If there is a great deal of masculinization with a markedly enlarged clitoris and an almost closed vagina (or a vagina located high and very posterior), then it is often advised to postpone exteriorization of the vagina until adolescence.

There are two distinct schools of thought in reconstructive surgery today concerning bringing the vagina down to the normal female position. Some people recommend that this all be done in infancy so that the entire reconstruction is complete by two years of age, accepting that mild complications may occur later in life. Others think that the surgery should be postponed until puberty, until the girl is under the influence of estrogen and the vagina can be brought down more easily when the young woman is ready to begin her sex life.

5. What are the complications associated with each type of procedure?

In male reconstructive surgery the complications include failure to get the penis straight, resulting in continued bending of the penis. Another complication would be a fistula or leak in the reconstructed male urethra. Neither one of these are severe complications presently and can be repaired without a great deal of difficulty. However, successful reconstruction does not result in a fully normal penis, as a rebuilt urethra is not surrounded by normal spongious tissue (corpus), nor does surgery correct the size of the penis.

In female reconstructive surgery, complications depend on the location of the vagina. One complication that can occur is that scar tissue forms where the vagina exits the inside of the body and causes stenosis or narrowing of the entrance to the vagina. With a high vagina, which is up near the bladder neck in the urinary control area (sphincter), the urinary control mechanism could be damaged and the child could become incontinent of urine as a result. This is why surgery should be performed by a surgeon who is experienced in dealing with birth defects of this magnitude. On occasion, it is necessary to reconstruct a neo-vagina. In such cases, the neo-vagina is normally functional but it may not look like normal female genitalia.

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6. On average, how many surgeries are needed to obtain a desirable cosmetic and functional result?

In males, this depends on the location of the urethra, the amount of available skin and the degree of bending of the penis. In favorable cases, the maximum number of operations can be two or three.

In females with a low vagina and a slightly enlarged clitoris, usually one operation is performed in infancy, followed often by a "touch up" operation in adolescence. In females with a high vagina, surgery in infancy feminizes the external genitalia, with subsequent surgery to bring down the vagina in late childhood or
early adolescence, depending on the preference of the patient.

7. What is required for post-surgical maintenance in females?

We usually do not advise vaginal dilation in our young patients because we think this is stressful, both on parents and children. However, dilation may be needed in post-pubertal women. We do accept the fact that some patients may need touch up surgery when they are older.

Psychological Treatment For Intersex Patients

1. Who should receive counseling?

In our opinion, all intersex patients and family members should seriously consider counseling. Counseling can be provided by a pediatric endocrinologist, psychologist, psychiatrist, clergyman, genetic counselor or other individual the family is comfortable talking with. It is important, however, that the individual offering counseling services be very familiar with diagnostic and treatment issues related to intersex conditions. Additionally, it is helpful if the counselor has a background in sex therapy or sex counseling.

The following topics are often addressed during counseling sessions: knowledge about condition and treatment, infertility, sexual orientation, sexual function and genetic counseling. At different times throughout their lives, we think that all patients and parents are troubled by a number of these topics and could therefore benefit from counseling.

2. How long do patients and family members need to see a counselor?

Each person is different in their need for counseling. We believe individuals benefit from talking to a counselor throughout life, but that the need to do so may increase or decrease at different points in development. For example, parents may seek the service of a counselor more frequently as their child ages and subsequently asks more questions about their condition. Additionally, patients may find it particularly helpful to seek the services of a counselor once they have decided to become sexually active.

Glossary of Terms

Adrenal glands:

a pair of glands in males and females, located above the kidneys, which produce a number of hormones, including androgens

Androgens:

the main hormones testosterone and dihydrotestosterone secreted from the testes

Estrogen:

the primary hormones produced by the ovaries

Genital folds:

common to both males and females early in development. In males the genital folds develop into the scrotum and in females develop into the labia majora

Genital ridges:

fetal tissue that can develop into either an ovary or a testis

Genital tubercle:

common to both males and females early in development. In males the genital tubercle develops into a penis and in females develops into the clitoris.

Intersexuality:

An alternative term for hermaphroditism

Karyotype:

A photograph of a person's chromosomes, arranged according to size

Mullerian ducts:

A system present in both sexes early in fetal development. Upon development this system differentiates into a uterus, fallopian tubes and posterior portion of the vagina.

Mullerian Inhibiting Substance (MIS):

Produced by the Sertoli cells, and inhibits Mullerian duct formation

Ovary:

female gonad which manufactures estrogens and eggs

SRY:

a gene on the Y chromosome whose product instructs the fetal germinal ridge to develop into a testis

Testes:

male gonad which manufactures testosterone and sperm

Urethral folds:

common to both males and females early in development, in males the urethral folds develop into the urethra and corpora and in females into the labia minora.

Wolffian ducts:

a system present in both sexes early in fetal development; upon development, this system differentiates into the epididymis, vas deferens, and seminal vesicles

Intersex Support Group Contact Information

Some of the Available Support Groups for Individuals Affected by Syndromes of Abnormal Sexual Differentiation

• Androgen Insensitivity Syndrome Support Group (AISSG)
  http://www.medhelp.org/www/ais
• Intersex Society of North America
  http://www.isna.org/
• Klinefelter Syndrome and Associates
  http://www.genetic.org/
• Magic Foundation for Children's Growth
  http://www.magicfoundation.org/www
• The Turner Syndrome Society of the United States
  http://www.turnersyndrome.org/

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next: A Single Word: Stop!
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~ all articles on gender

If there were only one word I could give to parents of a child born with ambiguous genitalia (intersexual, hermaphrodite, Androgen Insensitivity Syndrome, et al), that word would be: Stop! Repeat after me, ''STOP!''

When the doctors say, "Your child could never function as a male/female, so we suggest that we cut..." Say ''STOP!''

When an expert surgeon is brought in to tell you that your child has malformed genitals, that she/he needs adjustment, and now is the best time to do it. Say ''STOP!''

You have allowed genetic tests, which have come in with extra chromosomes or with a pattern that does not concur with external appearances. Say ''STOP!''

As much as every parent wants to bring home a girl, or a boy, your child may not be distinctly either. Often immediate corrective procedures are necessary for the life of the child. When well meaning clinicians attempt to make a package deal, say ''STOP!''

Early invasive treatments literally change the destiny, the identity, the 'me' of your child. It is OK to wait. Gender assignment (mutilation) is NOT COSMETIC SURGERY! It is OK to wait and see who the 'me' your child turns out to be, and then bring your child into the decision loop.

If your child is born absolutely mud-ugly, you would love your child, and you would see the wondrous beauty God has created in them. Even more important, you don't have to call your baby 'son' or 'girl'. Love your 'dear one'. Hug your 'precious child'. Enjoy their unique life. As their 'me' begins to be revealed, that is the starting point for mainstreaming toward a gender identity, if any. Depending on the diagnosis, that procedure could begin under 4 years old, or later.

It is our belief at I.S.G.I. that a certain degree of social conformity will eventually need to occur. We believe that God's creation of sexuality is a special gift, and the distinctive of 'male' and 'female' are part of His design. Those of us, your children, who don't exactly fit the mold will be held accountable before God for our lives. Do not rush to decisions for which your child will forever bear the consequences.

You may ask, "What if we make a mistake? What if we have chosen wrongly?" I was raised as a male, though my 'me' was female. The decision to 'adjust' my gender was not made well. My parents labeled my 'me' as odd, perverse, and as sin. They have missed out on a wonderful woman, Who's Who of American Women, a mom to three quality kids. Because they 'sat their minds in concrete' they refused to believe such a person as I could exist.

If you made early decisions to treat/not-treat which your child has voiced as wrong, don't let your pride add to the wall of mistakes. Accept your child, love your child, try to identify how your child is expressing their 'me'. Enjoy the marvelous gift of your 'unique' child, a child designed and built by God.

by Deborah E. Brown, Director Intersex Support Group International

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next: Report on Treatment of Newborns With Genital Abnormalities
~ all inside intersexuality articles
~ all articles on gender

When we speak of gender, in a context other than language, it is a recent concept in our culture, both lay and professional. In 1955, John Money, Ph.D. first used the term "gender" to discuss sexual roles, adding in 1966 the term "gender identity" while conducting his gender research at Johns Hopkins. In 1974, Dr. N.W. Fisk provided our now familiar diagnosis of Gender Dysphoria. Previously, one's sexual role was considered one of two discrete, non-overlapping congenital attributes--male or female. These two mutually exclusive categories allowed for no variation. Of course, we acknowledged the cultural differences in sexual roles, but there still could be only two modes of expression.

Now we know that one's gender is on a continuum, a blending, analogous to a "gray scale." But, our distribution of gender is bimodal, that is, most people are lumped at the two ends (see graphic) with only a minority in the middle. The great majority will see themselves as either male or female with all that implies.

Probably more upsetting to our conventional view of gender than this fuzziness of gender roles is that we can be a MIX of male and female identities within the same individual. Several researchers have developed theories of how the brain develops prenatally along sexual lines arising from androgen mediation. Dr. Milton Diamond concludes from his research that the brain has four stages of gender imprinting. The first is Basic Sexual Patterning such as aggressiveness vs. passivity. Second comes Sexual Identity (gender identity), third, the Mating Centers develop (sexual orientation), and fourth, the Control Centers for sexual equipment such as orgasm.

Gunter Dörner in Germany, using his research with rats, sees only three stages. He believes that first the Sex Centers develop giving typical male and female physical characteristics, then the Mating Centers (sexual orientation) and then the Gender Role Centers which are similar to Diamond's "Basic Sexual Patterning."

As a psychotherapist, I don't presume to enter into the discussion of what develops in what order and how. I take a more pragmatic stance and seek to observe what behaviors are linked, or independent from one another. From this research and observation, I have developed the list of five semi-independent attributes of gender. Not as a fixed dogma, but as a working theory, a map if you will, to help us understand this complex often hotly emotional issue of gender. Consider sexual identity / behavior springing from five semi-independent attributes. These five attributes are:

It is my contention that it is possible for an individual to view oneself and function as male or female to varying degrees in each of the five sub-categories independent of the others. For example, an individual may be XX female (chromosomal female), physically female, have a "female brain," be heterosexual but see her(him)self as male--or any other combination. One can be either male or female in each of the five sub-categories independent of each other. If we use "F" for female identity/function, and "M" for male identity/function and one through five for the semi-independent attributes listed above we could describe each individual according to their particular breakdown:

1M ----- 2M ----- 3M ----- 4M ----- 5F
A Gender Dysphoric, Morphological Male

1M ----- 2M ----- 3M ----- 4F ----- 5M
A Homosexual Male

1F ----- 2F ----- 3M ----- 4F ----- 5F
A Dominant, But Heterosexual, Even Feminine, Female

Since each of these independent attributes are graded, it is easy to see the possible combinations and degrees number in the thousands. With regard to gender, we each can be in a category of one--ourselves.

Whether it's gender identity, sexual orientation, or brain sex, the expression usually remains constant from childhood throughout one's life.

Now, for a more detailed description and illustration of the five sub-categories of gender:

The first sub-category, Genetics, is only beginning to be understood. How and how much do genetic influences effect one's expression of gender? We do know that besides the traditional XX chromosome of a typical female and the XY of a typical male, that there are other combinations such as XXY, XYY, and XO.

A XXY combination results in 47 rather the 46 chromosomes. This condition is called Klinefelder's syndrome and occurs in one in every 500 births. Individuals with Klinefelder's are sterile, have enlarged breasts, small testicles and penis, and a eunuch body shape much like the "Pat" character on "Saturday Night Live." They show little interest in sex.

Another 47 chromosome occurrence is XYY Syndrome. In this syndrome, the hormonal and physical appearance of the individual are evidenced as a normal male, but behavior is effected. Typically, XYY Syndrome people are bisexual or paraphilic (pedophillia, exhibitionism, voyeurism, etc.), and show very poor impulse control.

Where Klinefelder's and XYY Syndrome are examples of an extra chromosome, Turner's syndrome is a case of a missing sex chromosome. These individuals possess 45 chromosomes (written as XO), are unable to develop gonads, and are free of all sexual hormones, except those crossing over from the mother during fetal life.

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Turner's Syndrome people have external sex organs approximating a female, and their behavior is characterized as hyper-feminine, baby care oriented, and showing very poor spatial and math skills. The Turner's personality, free of all influence from testosterone, tends to be in direct opposition to the typical set of "Tom Boy" traits.

Turner's Syndrome relates well to our second category of Physical Gender--that being our primary and secondary sexual characteristics. To discuss this aspect of gender we need to examine hormonal involvement, in particular testosterone. All sexual differentiation, physical, mental, and emotional are produced by hormones which may be amplified and/or specified by one's social environment. During fetal life, the amount present, or the absence of testosterone determines our sexuality -- physically, mentally and emotionally. There are key times or periods during development when the fetus will go towards the male or the female depending on the level of testosterone. These windows of opportunity may be only open for a few days and if the needed level of testosterone is not present, a basic female orientation develops regardless of the testosterone levels before or after this critical period, and the resulting sexual imprint.

The first critical period is at conception when the presence of the SRY gene (Sex-Determining Region of the Y chromosome) will determine our physical gender. The SRY gene is normally found on the short arm of the Y chromosome, but can detach making for a XY female (the Y missing its SRY gene) or a XX male (the SRY attaching to the X).

The SRY gene causes the fetus to release TDF (Testes Determining Factor) which turns the undifferentiated gonad into testes. Once testes have formed, they release androgens such as testosterone, dihydrotestosterone, and anti-mullerian hormone.

Before the release of TDF, the developing fetus has two tiny structures, the mullerian and wolffian ducts, and two small undifferentiated gonads, neither testes nor ovaries. Without the influence of TDF and testosterone, the gonads form into ovaries and the mullerian duct forms into the female internal sex organs, the wolffian duct disappears and the external sexual tissue becomes the labia major, clitoris, labia minor and clitoral hood. With the influence of TDF, the gonads become testicles and the wolffian duct forms the male internal sex organs, the mullerian ducts dissolve and the external tissue develop into the penis, scrotum, penile sheaths and foreskin. In other words, without testosterone all fetuses develop into females. Adam springs from Eve, not Eve from Adam.

As the primary sexual differentiation proceeds towards our physical gender, sometimes deviations occur. These anomalies are sometimes called "experiments of nature." One such "experiment" is a condition termed congenital adrenal hyperplasia (CAH) when the female fetus releases a steroid hormone form her adrenal glands which resembles testosterone. The resulting child often has confusing genitals ranging from deformed female genitals to an appearance of male genitals. If the child is raised as male, following any "adjusting" surgery and given male hormones at puberty, the individual develops as a "normal" but sterile male with XX chromosomes. On the other hand, if the infant is surgically corrected to female and given female hormones, there is a 50/50 chance of lesbian expression.

Another revealing "experiment of nature" is Androgen Insensitivity Syndrome. In this case, there is normal amounts of testosterone circulating in a XY chromosome fetus, but each cell of its body is unable to react to it. This is similar to Turner's Syndrome in that neither the mullerian or wolffian ducts mature and the external genitalia develops into an approximation of normal female genitals, but differs in that TDF stimulates the gonads into becoming functioning testicles in a XY chromosome body. The child is raised as a girl and is seen as a normal female until she fails to menstruate because she has no uterus. If enough estrogen is produced by her testes, she develops into a completely normal appearing, sterile female with XY chromosomes and internal testicles.

Now we must leave the comfortable arena of biology and development and enter the more rocky, emotional and even political arena of psychology, anthropology, and sociology. An arena where deduction, speculation and circumstantial evidence is more evident than "hard fact."

The third, forth and fifth attributes all reside in the brain and there is controversy on both a congenital vs. environmental level and on a developmental one. It is still argued by some that sexual orientation is a choice and there is no difference in the mental abilities of men and women. Others argue that the evidence, both direct and circumstantial, is becoming overwhelming that these stands are incorrect.

Because of the controversy over whether significant differences in brain structure do exist between the genders, I will confine my discussion of the "Brain Sex" attribute to some behavioral differences that have been noted between morphological male and female infants and children. At all times keep in mind that Physical Gender does NOT always indicate "Brain Sex" Gender. And, while these differences are the norm, they are not absolute. Individual children may differ.

Even a few hours after birth, significant behavioral differences are noted between morphologically normal boys and girls. Newborn girls are much more sensitive to touch and sound than their male counterparts. Several day old girls spend about twice as long looking back at an adult face than boys, and even longer if the adult is speaking. A girl can distinguish between the cries of another infant from other extraneous noises long before a boy. Even before they can understand language, girls do better at identifying the emotional context of speech.

Conversely, during the first few weeks of infant life, boys are inattentive to the presence of an adult, whether speaking to the infant or not. However, baby boys tend to show more activity and wakefulness. At the age of several months, girls can usually distinguish between the faces of strangers and people they know--boys usually do not demonstrate this ability.

As infants grow into children, the differences seem to intensify and polarize. Girls learn to speak earlier than boys and do a better job of it. Boys want to explore areas, spaces and things, girls like to talk and listen. Boys like vigorous play in a large space where girls like more sedentary games in smaller spaces. Boys like to build, take things apart, explore mechanical aspects of things and are interested in other children only for their "use" (playmates, teammates, allies, etc.). Girls see others more as individuals--and will likely exclude a person because their "not nice," and will more readily include younger children and remember each other's names. Girls play games involving home, friendship, and emotions. Boys like rough, competitive games full of "'zap, pow' and villainy." Boys will measure success by active interference with other players, preferring games where winning and losing is clearly defined. In contrast, girl play involves taking turns, cooperation and indirect competition. Tag is a typical boy's game, hopscotch is a girl's game.

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If "Brain Sex" is controversial, the fourth attribute of Sexual Orientation is ever more so. Although there is public and political controversy, the overwhelming majority of medical and psychological practitioners agree that sexual orientation may prove to be mainly congenital, or at least firmly established in early childhood. The term "Sexual Orientation" is a bit misleading. It is more an erotic or love orientation in that Sexual Orientation determines the physical gender we find attractive, with whom we fall in love, and have romantic as well as sexual fantasies.

From experiments with animals, "experiments of nature" in humans, and genetic and neurological studies come a consistent, though still circumstantial, stream of evidence that indicates one's sexual orientation is largely hormonally determined by the presence of testosterone at key periods in fetal development, and possibly even beyond. As we have seen with congenital adrenal hyperplasia (CAH), female fetuses exposed to testosterone-like agents develop a 50/50 chance of a lesbian versus heterosexual orientation if raised as girls. Studies of identical twins also indicate that when one twin shows homosexual or lesbian expression, there is a 50/50 chance of homosexual or lesbian expression in the other twin—whether raised together or apart.

The remaining 50% of determination may be continued hormonal development, environmental considerations or a combination. One interesting consideration with determination may be during our early postnatal development since the fetal stage for human babies is not completed during gestation, but continues for a year or more outside the womb. And during this critical time after birth, we have the highest level of testosterone present, excluding the onset of puberty--with many brain receptors to receive this powerful hormone. At any rate, between the ages of three and six years, one's erotic orientation is established but may not be acted upon for decades, if at all.

The last of our five attributes, Gender Identity, is the last to be identified, and the least understood and researched. When one's Gender Identity does not match their Physical Gender, the individual is termed Gender Dysphoric. Like Sexual Orientation, gender dysphoria is not pathological in itself, but a natural aberration occurring within the population. As with sexual orientation, the percentage of the population having gender dysphoria is in dispute, with estimates ranging between one in 39,000 individuals to three percent of the general population.

Although it is useful for psychotherapists and other behavioral scientists to use diagnostic nomenclature in order to describe an individual, we must remember that these categories are often fluid. An individual may see and express themselves for years as a crossdresser, then change their self-identity to a more transgendered or transsexual one. This change may be because the individual actually changes their self-view with age, or more information and experience lead to a clearer understanding of self.

Gender dysphoric individuals commonly, even frequently, have a sexual orientation markedly different from their gender identity, which suggests that the key periods of these formations occur at differing times. While gender dysphoric individuals display a wide gamut of incongruity and discomfort with their physical gender, three main groups have been delineated:

Crossdresser

Those individuals with a desire to wear the clothing of the other sex are termed crossdressers. Most crossdressers are heterosexual men--one's sexual preference has nothing to do with crossdressing. Many men like to wear women's clothing in private or in public, and may even occasionally fantasize about becoming a woman. Once referred to as a transvestite, crossdresser has become the term of choice.

Transgenderist

Transgenderists are men and women who prefer to steer away from gender role extremes and perfect an androgynous presentation of gender. They incorporate elements of both masculinity and femininity into their appearance. They may be seen by some persons as male, and by others as female. They may live part of their life as a man, and part as a woman, or they may live entirely in their new gender role but without plans for genital surgery.

Transsexual

Men and women whose gender identity more closely matches the other sex are termed transsexual. These individuals desire to rid themselves of their primary and secondary sexual characteristics and live as members of the other sex. Hormonal and surgical techniques make this possible, but it is a difficult, disruptive, and costly process, and must not be undertaken without psychological counseling, careful planning, and a realistic understanding of the likely outcome. Most transsexual people are born and first live as male.

Transsexuals are diagnostically divided into the sub-categories of Primary or Secondary. Primary transsexuals display an unrelenting and high degree of gender dysphoria, usually from an early age (four to six years of age). Secondary transsexuals usually come to a full realization of their condition in their twenties and thirties, and may not act on their feelings until they are much older. Typically, secondary transsexuals first go through phases that would be self-assessed as being a "crossdresser or transgenderist."

The outcomes of transsexuals vary greatly. There seems to be no significance in the outcome differences between primary and secondary transsexuals. Those who complete this gender reassignment process (the process of "transition") and have exercised due diligence throughout generally do very well for themselves and lead happy and fulfilling lives. Unfortunately, others who go through the process on a perfunctory basis may be unprepared to fully and comfortably assimilate into their new gender role. In conclusion, when we think of gender, we need to realize that many combinations in gender exist, and that they are all natural. Although most people are morphologically male or female, those who homogeneously fill all five gender categories as the same gender may be in the minority. The largest minority, but still a minority.

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Carl W. Bushong, Ph.D., LMFT, LMHC

about the author

Carl W. Bushong holds a doctorate in clinical psychology, and has been in private practice since 1977. Dr. Bushong is the Director of the Tampa Gender Identity Program (TGIP), where a full range of transgender services are provided using his Informed Choice method--the individual uses their own decision-making capabilities after being provided with the necessary information and feedback to do so. In other words, the patient is ultimately in charge of the decision-making process--and has access to the facilities and expertise of a well-trained gender team.

Copyright 1995 Tampa Stress Center, Inc.
Source: Tampa Stress Center, Inc., PO Box 273107, Tampa, Florida 33688. Telephone (813)884-7835.

next: First-Person Stories By Intersexuals About Their Lives

References

Benjamin, H. The Transsexual Phenomenon: A Scientific Report on Transsexualism and Sex Conversion in the Human Male and Female. New York, Julian Press, 1966.

Buhrich, N., Bailey, J.M. and Martin, N.G. Sexual orientation, sexual identity, and sex-dimorphic behaviors in male twins. Behavior Genetics, 21:75-96, 1991.

Diamond, M. Human sexual development: biological foundations for social development. Human Sexuality in Four Perspectives. Beach, F.A. (ed.), Baltimore, Johns Hopkins Press, 38-61, 1977.

Dittman, , R.W., Kappes, M.E. and Kappes, M.H. Sexual behavior in adolescent and adult females with congenital adrenal hyperplasia.Psychoneuroendocrinology, 1991.

Docter, R.F. Transvestites and Transsexuals: Toward a Theory of Cross-Gender Behavior. New York, Plenum Press, 1988.

Dörner, G. Hormones and sexual differtiation of the brain. Sex, Hormones and Behaviour, CIBA Foundation Symposium 62, Amsterdam, Excerpta Medica, 1979.

Dörner, G. Sexual differentiation of the brain. Vitamins and Hormones. 38:325-73, 1980.

Dörner, G. Sex hormones and neurotransmitters as mediators for sexual differentiation of the brain. Endokrinologie, 78. 129-38, 1981.

Dörner, G. Sex-specific gonadotrophin secretion, sexual orientation and gender role behaviour. Endokrinologie, 86. 1-6, 1985.

Fisk, N.M. Gender dysphoria syndrome: (The how, what, and why of a disease). In Proceedings of the 2nd Interdisciplinary Symposium on Gender Dysphoria Syndrome. (D.R. Laub and P Gandy, eds.). Division of Reconstructive and Rehabilitation Surgery, Stanford University Medical Center, 1974.

Kaplan, A.G. Human sex hormone abnormalities viewed from an androgenous perspective: a reconsideration of the work of John Money. The Psychobiology of Sex Differences and Sex Roles. Parson, J. (ed.). Hemisphere, 81-91,1980.

Kimura, D., and Harshamn, R. Sex differences in brain organization for verbal and non-verbal functions. Progress in Brain Research. De Vreis, GJ. it al. (eds.), Amsterdam, Elsevier, 423-40, 1984.

Kimura, D. Are men's and women's brains really different? Canadian Psychol., 28(2). 133-47, 1987.

Moir, A., and Jessel, D. Brain Sex: The Real Difference Between Men and Women. New York, Dell Publishing, 1989.

Money, J. Gay Straight, and In-Between: The Sexology of Erotic Orientation. New York, Oxford University Press, 1988.

Money J., and Ehrhard, A.A. Man and Woman, Boy and Girl: The Differentiation and Dimorphism of Gender Identity from Development to Maturity. Baltimore, Johns Hopkins Press, 1972.

Money, J., Schwartz, M., and Lewis, V.G. Adult herotosexual status and fetal hormonal masculinization and demasculinization: 46,XX congenital virilizing adrenal hyperplasia and 46, XY androgen insensitivity syndrome compared. Psychoneuroendocrinology, 9:405-414, 1984.

Stein, S. Girls and Boys: The Limits of Non-Sexist Rearing. London, Chatto and Windus. 1984.

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next: First-Person Stories By Intersexuals About Their Lives
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The physicians and nursing staff in the delivery room grew suddenly silent, almost grim. "Is there something wrong with my baby?" queried the exhausted new mother. A nurse whisked the infant off to the warming unit, while another explained that the baby needed to be checked out and would be returned as soon as possible. Meanwhile, a pediatrician, an endocrinologist, and a plastic surgeon were summoned with all possible haste to the hospital. The baby was not sick; it had been born with "ambiguous genitals." They might be described as a split scrotum, in the shape of a Parker House roll, with a tiny tiny penis peeking out from between the sections, and the urethra behind the penis, rather than at the tip. Or were they partially fused outer labia, with a clitoris enlarged to 10 times the usual size? The experts would work around the clock to make a decision as quickly as possible, and would then use surgery and hormones to make the baby look as "normal" as possible, removing "discordant" structures, including all but a tiny bit of the clitoris.

"It seems that your parents weren't sure for a time whether you were a girl or a boy," the gynecologist explained, as she handed over three fuzzy photocopied pages. The young woman had asked the doctor's help to obtain records of a mysterious hospitalization which occurred while she was yet a tiny infant, too young to recollect. She was desperate to obtain the complete records, to determine who had surgically removed her clitoris, and why. "Diagnosis: true hermaphrodite. Operation: clitoridectomy."

"We advise you to fake an injury and leave quietly," Olympic officials told Spanish hurdler Maria Patino. They had just received the result of a laboratory test that indicated that her cells had only a single X chromosome. Patino was disqualified. Statistics are hard to come by, but it seems that as many as one in 500 women competitors are disqualified by the sex test. None are men masquerading as women; they are people whose chromosomes defy the notion that male and female is as simple as black and white. Patino is a woman with "male" chromosomes; the medical label for her condition is androgen insensitivity syndrome.

Each of these scenarios illustrates the traumatic repercussions when intersexuality is brought to light in a culture which insists on believing that sex anatomy is a dichotomy, with male and female conceived of as so different as to be nearly different species. However, developmental embryology, as well as the existence of intersexuals, proves this to be a cultural construction. Genitals may be intermediate in form between the male and the female pattern. Some have female genitals with internal testes, or fairly male genitals with internal ovaries and uterus. About one in 400 men have two x chromosomes. At least one in a few thousand people are born with a body which violates the dualism of "male" and "female" strongly enough to place them at serious risk of parental rejection, stigmatization, often harmful medical interventions, and the emotional pain of secrecy, shame, and isolation.

In modern Western culture, the events of an intersexual's birth are hidden in shame and half-truths. Parents most often will not reveal their ordeal to anyone, including the child as s/he comes of age. The child is left physically damaged, and in an emotional limbo without access to information about what has happened to them. The burden of pain and shame is so great that virtually all intersexuals stay deep in the closet throughout their adult lives.

Current medical thinking treats the birth of an intersexual infant as a "social emergency" that must be resolved by assigning a sex and erasing any ambiguity as soon as possible. Medical texts advise the clinician to systematically pursue even a slight doubt about the sex of a newborn, but not to reveal such doubts to the anxious parents. Intersexual children's bodies combine male and female characteristics, and the decision to register the child's birth as a girl or as a boy is made by the physician, largely on the basis of the prognosis for genital plastic surgery. One surgeon, asked why intersex children are usually assigned female, explained, "It's easier to dig a hole than to build a pole." That is, surgeons find it easier to assign the child as a girl, construct an opening, and remove enlarged clitoral tissue, than to assign the child as a boy and try to enlarge and reshape the small penis. Surgeons and endocrinologists have not considered leaving the child's body intact and providing emotional support for being different to be an option.

Although physicians understand that they will actually impose, rather than determine, a sex, they tell parents that tests will reveal the child's true sex, in a day or two at most, and assure them that surgery will let their child grow up normal, and heterosexual. They are careful to avoid words like "hermaphroditism" or "intersexuality," and speak only of "improperly formed gonads," never of ovaries or testes. When, years later, the intersexual adult tries to determine what was done to him or her, and why, s/he will encounter these tabooed words many times in medical literature and sprinkled liberally throughout their medical records.

This medical treatment amounts to a policy of denial. Secrecy and taboo disrupt emotional development and stress the whole family. Many adult intersexuals have had to discover their history and status independently without emotional support of any kind. As a result, more than a few are estranged from their families. Surgery destroys genital anatomy and many intersexual children are subjected to repeated surgeries, over a dozen in some cases. Genital surgery disrupts the infant's erotic development and interferes with adult sexual function. Surgery performed on infants precludes choice; the actual goal of early surgeries may be the parents' emotional comfort rather than the child's ultimate well-being. Even at clinics which have specialized in treating intersexual children for decades, there is generally no program of professional counseling. Some physicians privately concede that they perform any needed counseling themselves during annual evaluations. From the point of view of the intersexual adolescent such a physician may be seen as allied with the parents against any trace of sexual difference or criticism of medical treatment, rather than as a trusted counselor and advisor.

As a growing number of adult intersexuals have come forth to speak about their experiences, it is apparent that surgery has generally been more harmful than helpful. The "conspiracy of silence", the policy of pretending that intersexuality has been medically eliminated, in fact simply exacerbates the predicament of the intersexual adolescent or young adult who knows that s/he is different, whose genitals have often been mutilated by "normalizing" plastic surgery, whose sexual functioning has been severely impaired, and whose treatment history has made clear that acknowledgment or discussion of intersexuality violates a cultural and a family taboo.

A few are now beginning to organize to oppose this silence. The San Francisco-based peer support group Intersex Society of North America strongly recommends counseling for the entire family of a newborn intersexual and for the intersexual child as soon as s/he is old enough. They oppose "normalizing" cosmetic surgery performed on infants and children who cannot provide informed consent. ISNA believes that, with appropriate emotional support, intersexual infants and children would fare better without genital plastic surgery. Like ISNA, Britain's Androgen Insensitivity Support Group advocates the provision of competent psychological support for inter-sexuals and their families and decries physicians who believe that counseling can be accomplished in a few minutes of explanation by a pediatric endocrinologist or urologist. The California mother who founded the Ambiguous Genitalia Support Network, a parents' group, says she made a conscious decision to avoid euphemism in naming her group. "If parents can't deal with the words "ambiguous genitalia," how are they going to be able to accept their children?"

Children born intersexual face psychological difficulties no matter what treatment choice is made, and sexually sophisticated, ongoing counseling for both family and child must become the central component of the treatment process. Parents and medical staff must be reeducated about sexuality. Intersexual children need early access to a peer support group where they can find role models and discuss medical and lifestyle options.

Bo Laurent, a doctoral student at the Institute for Advanced Study of Human Sexuality in San Francisco, is a consultant to the Intersex Society of North America.

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All of these terms are more likely to be heard in a therapist's office than a shelter, but knowing them can help one understand the complexities facing those who transcend stereotypes of gender expression or physical sex: including those who are usually known as intersexual.

An intersex or intersexual person has a body with external sexual characteristics typical of both male and female bodies. Nonetheless, in our society, children who are born intersexual are nearly always assigned a male or female gender role, although because of external sexual ambiguities, that assignment may not occur at birth. Intersexual children in the United States typically have their genitals surgically altered before age three to conform to gender assignment.

Intersex Survivors

In preliminary data, the Gender, Violence, and Resource Access Survey of trans and intersex individuals found 50% of respondents had been raped or assaulted by a romantic partner, though only 62% of those raped or assaulted (31% of the total sample) identified themselves as survivors of domestic violence when explicitly asked.

Clearly, intersex survivors exist. There are many reasons why so few intersex survivors are served by the community that typically aids and advocates for survivors of domestic violence. This early punishment for simply expressing gender identity leaves many scars, but the experiences that lead intersexual domestic violence survivors to believe that it's normal for "people like me" to live with abuse only increase in magnitude as the intersex survivor matures.

Perhaps the most damaging force is the one that teaches intersexual persons that "helping" institutions are often anything but, and may actually harm them. Although these stories' power is anecdotal and not statistical, they and others like them are widely known and retold among intersex individuals. Because of the extreme cruelty and casual indifference of authorities and institutions exemplified in these common stories, an intersex survivor may fear an unknown service institution more than a familiar abuser.

A second level of fear intersex survivors face when seeking help is the possibility that their intersex status, if previously hidden, might become known and expose them to more violence, as in the Brandon Teena case. Exposure might also lead to the loss of a job, as very few jurisdictions provide employment discrimination protection to intersexed persons, and stories of job loss or workplace harassment upon exposure are legion.

Should a intersex survivor decide to brave these risks and seek help despite them, she or he faces other barriers. Some information suggests that intersex survivors have frequently been multiply abused for years or decades. Often a intersex survivor has a unique body and/or a unique vulnerability to the emotional aftermath of sexual violence; either can make difficult or impossible discussing this abuse with an unfamiliar victims' advocate.

Related to this problem is the shame and self-doubt that is endemic in this community, due to the pressures intersex persons have felt from their earliest years to deny their feelings and conform to others' expectations. Adding to this shame and self-doubt is the widespread perception that intersex individuals are mentally ill. Abusers use this shame and self-doubt against their intersex victims to undermine their victims' perceptions and to convince them that no one else will want them.

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This "Other" A Thumbnail History of Myself

(A Freak Of Nature, Born At A Time Prior To DNA Testing)

The only term that was known, as far as I was ever told, was that I was an Open Birth, meaning I had ambiguous genitalia, that I could not be identified by the people who examined me as either a male or a female. These people were a Catholic Sister and a Veterinarian, both in a small western town, dealing with a premature and abandoned miscarriage.

This was a condition ascribed to the youth and/or illness of my biological Mother at the time of my birth. In certain conversations discussing me, I had overheard this on various occasions. I recall that I was stripped naked many times and exhibited to other adults. As a small child, from age 2-4, I remember that I enjoyed being the center of attention and awe and speculation by adults.

The man I knew as Dad was, I believe, related to me. Whether he was, in fact, my biological parent is unknown. His sibling and a younger sister were suspected to be in an incestuous relationship. My genealogical research indicates that my genetic condition existed in the family. Two of three "brothers" immigrated from Germany and came to America. The youngest was listed as the "wife" of the older sibling on passports and ship manifests. German/Gypsy/Native American lineage, I have reason to believe, carried my rare DNA karyotype. Research is continuing at this time.

True Hermaphrodite

I am one of several types of true hermaphrodites. The XXXY (mosaic) karyotype is extremely rare. One theory of the cause of my own condition has a lot of support. It maintains that two ovum were produced simultaneously in my mother and the eggs fertilized independently as maternal twins. During gestation the eggs merge into a single fetus, one ova was destined as male the other as female.

My understanding is that sometimes both ova might well have been male XY or female XX, in which case the child would have both distinctive DNA chromosome karyotypes, a XY/XY or a XX/XX (mosaic).

These people would appear perfectly male or female unless some medical situation required a chromosome karyotyping. That is an unusual procedure. How many are like this is unknown, as few are tested. They, like me, would have two separate chromosome karyotypes, similar to Siamese Twins sharing one body to varying extents. It is also my understanding that present fertility drugs today may make this condition much more common. In my case, my karotype is XX/XY, hence I have characteristics of both male and female.

Confusion and Abuse

I was given a boy's name and a separate girl's name by my "Father" and his wife, my "Mother," with two birth certificates. Neither was recorded at the time, but awaited a future decision. Eventually, I was "recorded" later as a male, but called by an ambiguous nickname of a comic strip character, a child that no one knew what sex the child was, which was fitting (from Barney Google).

I was left "as is" awaiting further physical development. From the age of four to sixteen years old, I was sexually, physically and mentally abused by several members of my own family. Then I was able to stop the most invasive abuse by choosing to be a male, at age fifteen, accomplished by taking massive doses of testosterone to effect secondary male sexual characteristics. ( Deeper voice, body and facial hair, that allowed me to pass as a male.)

If you refer to the sexual abuse links, you may get some idea of the traumas caused by this abuse. The intersexual condition caused me to be abused by both "normal" sexes. Something seemed to drive others to experience their sexual fantasies, with me as the unwelcome recipient. Personally, all I derived was pain, frustration, and fear of failing to please those I was dependent on as a child. I suffered extreme feelings of guilt when I learned what these acts were.

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Not Everything Bad

Not all of my life was bad or sad. Many parts were humorous, as I kept my own sense of humor, much of which was due to my masquerade as a macho male, as I perceived and played that role in many all-male environments, ie: military, jails, and prison. I never succumbed to a male/male relationship, due to inhibitions and prior abuse by homophobic males. Actually, the only way I could even have a homosexual relationship would be to have sex with another like myself (not likely), so homophobia is not an issue with me.

In public, I have been, in all respects, a male heterosexual. And like many real males, I've felt woefully inadequate for much of that time. I had several advantages as a partner: insight, companionship, and
communication, and my own desire for lengthy foreplay.

Although inadequate, I was married for eighteen years to two "normal" women. However, when I revealed my condition (to the extent, I was aware of it), they reacted first with disbelief for a few years, then rejection, as they had homophobic reactions, social concerns with "their being bisexual," worries about themselves being gay. Both sought "normal" affairs while married, unable to accept me as is, and mostly unable to deal or cope with their own sexuality .

A Good Parent

Having raised three children alone through pre-teen and teenage years (11 years), I can appreciate the problems of single parenting. With two girls, I discovered the bias and prejudices of a male dominated school system. With 90% of discretionary funds expended on male sports activities, I resented and fought the system on behalf of my daughters, and my son, feeling he too was being brainwashed into participating in aggressive sports.

No one that knows me could fault me on my parenting skills. The idea that a gay, lesbian or gender dysphoric person is unfit as a parent for "normal children" is ludicrous! My own children never knew my intimate identity, until a local laboratory gossip leaked my DNA tests results. The two oldest have not changed and support me, however, my youngest daughter (15) was teased at school and chose to go live in another state with my ex-wife. They are all heterosexual as far as I know, but perhaps they are more tolerant of others, having known, loved and respected me.

More Information on Hermaphrodites

For those who want to know more about the strange disassociated life I led, and my own traumas, I can recommend a book, Herculine Barbin: Memoirs of a French Hermaphrodite. Herculine was raised as a female in convent surroundings. I felt the trauma and the emotions expressed in this book as my own. It is sad that there has been so little difference in public tolerance. Much has remained unchanged since 1838.

My own book "Masquerade," is being edited as I write this. Perhaps it will make a little difference in public attitudes, and assist some lost soul who feels like a lonely outcast, as I did, to perhaps accept themselves better and find out they're not alone. Hopefully, others can find acceptance and be themselves, live a productive life, beyond a sick social preoccupation with pseudo-gender differences, associated sex and hate crimes and stop the reactionary response habits to childhood traumas.

As you look through my site, I hope you'll think about these questions:

• Can we heal the mindless wounds we and others have inflicted on us, for the crime of being different outside than we are inside, by divisive and false social conditioning?
• Are we not all the same ambi-gendered children of the universe, residing in some arbitrary physical form?
• Who's agenda is furthered by dividing us?

more: The Berdache Tradition

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ABSTRACT: Integration of mental illness and substance abuse treatments is important for patients with dual diagnosis, the coexistence of an emotional ailment and a chemical dependency. Such comorbidity is usually associated with a poor prognosis. Both disorders require appropriate therapy so that remission of psychiatric symptoms and maintenance of sobriety become reachable goals for these individuals. A joint therapeutic approach improves outcome, functional expectation, and community adjustment.

COEXISTENCE of mental illness and a substance abuse disorder known as dual diagnosis vastly compromises management of both conditions. The lifetime prevalence rate for psychiatric conditions is 22.5% in the general population, and 19.6% of people have a chemical dependence; having both at the same time occurs in approximately one third of people with either of these conditions. Comorbidity results in an outcome much worse than when only one of these conditions is present.

Managing both aspects of the dual diagnosis conjointly can be advantageous. The core treatment provides an opportunity to approach both illnesses at the same time. Staff members are trained to assess and treat these problems in a unified way. The therapeutic team can integrate within the program the knowledge and skill needed to treat both disorders and lessen the patient's denial of either entity.

In addition, prognosis for improvement in each of these disorders is enhanced by treatment of the other condition. Physicians, other clinicians, and health care planners document benefit from an integrated, therapeutic method versus an isolated approach to each ailment separately. For example, a patient with severe mental illness and alcoholism could derive significant improvement in psychologic symptoms by avoiding intoxication; in the same manner, control over a component of psychiatric illness would help an emotionally compromised drug addict attain sobriety. Compliance with prescribed treatment and adherence to follow-up is greatly improved when both aspects of the problem are attended. One study assessing the 4-year outcome of patients with mental illness treated in a dual diagnosis program showed a 61% remission from alcohol abuse.

Dichotomous, suboptimal care is sometimes the result of poor coordination of therapeutic services by mental health agencies and substance abuse centers. Some individuals with either one of these ailments are barred from treatment facilities that focus on the other condition, leaving them in a gap between these two disciplines.2,4 Because they are difficult to treat, people with chemical addictions and mental illnesses are excluded from care by some clinicians. Differences in treatment philosophy or mistrust between professionals can lead to barriers between the psychiatric, general medical, and addiction treatment teams, exaggerating the already negative effects on recovery rates.3 On the other hand, a comprehensive, dual diagnosis approach to both types of illness from the beginning potentially improves the prognosis.

Careful diagnostic evaluation in dual diagnosis cases offers important prognostic and treatment implications. More severe psychiatric disorders indicate worse outcomes.5 The prognosis for patients with psychiatric disorders is typically poorer with accompanying substance abuse than without such problems. For individuals with chemical dependence, the best predictor of improvement is a lessening in severity of concomitant psychiatric symptoms.5 Improved mental status has a positive impact on the addiction remission potential.

TREATMENT METHODS

Central State Hospital in Louisville, Ky, has a dual diagnosis treatment unit. Admission criteria for this section of the hospital include patient motivation with a comorbid, major psychiatric disorder and substance abuse. Exclusions include persons who are medically unstable or require one to one personal psychiatric supervision, those who are unable to comprehend educational material or participate in group and milieu offerings, and those whose behavior is uncontrolled to the point of exhibiting a high violence potential. The dual diagnosis staff screens applicants for admission on an elective basis, with primary focus on acceptance of chemically dependent individuals with motivation, who have the desire for sobriety and need for psychiatric treatment. Admission is denied to those not highly committed to the process of recovery.

A comprehensive history and physical examination are done on the day of admission.6 Appropriate laboratory studies are done. Feedback about the patient from family, a previous physician, or through other means greatly improves the evaluation. Assessment and observation of symptoms that could arise from either or both conditions help identify problems and direct therapy in the proper direction.1,4

Dual diagnosis treatment begins with the detoxification procedure, lasting a week or more, depending on the type and quantity of substances used. The detoxification period is also an opportune time to develop doctor-patient rapport and carefully assess the source of psychiatric manifestations, determining whether they are primary or induced by drug abuses.1 In this population, establishing a productive therapeutic alliance is critical to gaining trust and keeps the patient in the program. Psychiatric management follows a thorough evaluation of all signs, symptoms, and history. Routine psychiatric pharmacotherapies and/or electroconvulsive therapy are used as warranted by clinical indications. Psychotherapy, individual counseling, and group therapy are provided, as are educational and recreational activities.

Attendance at Alcoholics Anonymous (AA) meetings is expected. With its strong peer group involvement, AA is a potent factor in confronting denial. Patients are given the opportunity to initiate support from the community by choosing AA sponsors from people in recovery from chemical dependencies.7 Such contacts should be maintained through discharge from the inpatient program. These sponsors are an essential part of recovery, facilitating the individual's growth in the process of long-term rehabilitation by their counsel and regular interpersonal contact. Each individual receives support in this manner. They are instructed to choose as sponsors recovering individuals who have maintained steady recovery for at least 1 year. Finding enough local sponsors has never been a problem; many such people are willing to assist patients with dual diagnosis in their integration to the AA community.

Double Trouble is a new type of 12-step program8 for persons with both a psychiatric disorder and an addiction. Smaller than the traditional group, it provides stronger support and openness to its members. Double Trouble groups are available to our discharged patients.

Educational programs, film and discussion groups about drug abuse, family conferences, and sessions with chemical dependence counselors are other treatment modalities for people with these difficulties.1 Such activities are effective in rallying members of the immediate family to give full support not only to the program, but most of all to the patient, who at one time was alienated and lost credibility with family and friends.

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SOCIAL THERAPIES

Self-help groups for people with chemical dependency are important therapeutic modalities. Patient education, psychotherapy, and similar rehabilitative offerings are also typical treatment methods.

Self-Help Groups

Alcoholics Anonymous meeting attendance is mandatory, 7 days per week. This actively confronts denial of the substance abuse problem, thus diminishing the major barrier to treatment in this population. The routine 12 steps of the AA format are the focus of therapy for chemical dependence.2-4,7 Group participation, with oral and written assignments, is part of this approach. Substance abuse counselors facilitate this procedure with concentration primarily directed toward AAís first three rehabilitation steps, (1) recognizing helplessness over addiction, (2) recognizing the possibilities for recovery, and (3) deciding to commit to the process of recovery.7,9

On discharge, regular AA meeting attendance and completion of all 12 AA steps are anticipated.7 Discussions about all the steps of therapy in AA are readily available in the literature; peer counseling regarding these steps may be the most effective remediation of a substance abuse disorder.7,10

Education and Counseling

Discussions, lectures, and films are incorporated into the program for the purpose of informing and teaching patients about the deleterious effects of substance abuse on themselves, as well as on their families, employment, and future. Counseling and group or individual psychotherapy play a pivotal role in the attitudinal change being encouraged.1,4 A personalized approach opens the door to involvement in the program. One-on-one teaching augments individual advancement in the process. Gaining insight on self-care and improving judgment are other goals.

Rehabilitation Suggestions

The program presents several options that are available to persons reforming their lives. Vocational rehabilitation services are vital. People devastated by long periods of psychiatric disability and/or addiction can greatly benefit socially from sobriety. They are extended the privilege of working for a few weeks through the state vocational rehabilitation services agency after completion of the inpatient program. The job, though short, increases self-esteem. The vocational rehabilitation services agency then directs the patient to a permanent job, further education, or other related activities.

Placement Plans

The purpose of placement is to assist patients in finding not only a safe place for continued drug-free life, but also one that encourages prolonged sobriety, stability, and well-being while maintaining appropriate psychiatric therapies. A good social support network is important; thus, halfway houses or day programs are made available, as well.

Discharge planning begins at admission. Available options are discussed, with the patient playing a significant part in the decision-making process. The failure or success of placement after discharge often depends on the choice made. Placement is as vital as the formal part of the program, since the choice made often predicts the prognosis. Outpatient follow-up care and a stable place in which to live are assured for all cases.

In our experience, people who opt for halfway house placement outside their community have a greater chance of staying sober for a longer time period. Given the occasion to start over, they begin a life-style conducive to recovery, as opposed to those who choose to stay in their community. Of course, relapse occurs in all groups. Patients who remain close to the AA community generally have a better sobriety success rate.

VARIABLES

Variables such as young children, parents, and spouses or significant others also determine choices and outcome. Problems or concerns in these areas affect the patient. Small children without day care, for example, present an obstacle that is at times insurmountable; some parents are therefore unable to join in the treatment program. Few halfway houses offer assistance to women with children. Unfortunately, many placement programs are not prepared to handle child care. Those that do focus on helping their residents to be responsible and accountable.

Some people benefit from court-ordered treatment; a program that works with the legal system can enforce rehabilitation via sentencing as required by law. A program such as the one we have outlined should provide gratifying results in a population that is difficult to treat.

Variations in management are individualized to the patient, medical team, and institution. Facilities have widely different philosophies about treatment, for example, concerning the value of total abstinence versus controlled drinking as a therapeutic goal or the use of pharmaceuticals such as disulfiram (Antabuse) or naltrexone (ReVia) as an aid to sobriety.1 Dual diagnosis programs such as ours are generally recognized as being successful, despite dealing with a notoriously relapse-prone patient population.

Joel Velasco, MD, Arthur Meyer, MD, and Steven Lippman, MD Louisville, Ky

References

1. Zimberg S: Introduction and general concepts of dual diagnosis. Dual Diagnosis: Evaluation, Treatment, Training and Program Development. Solomon J, Zimberg S, Shollar E (eds). New York, Plenum Press, 1993, pp 3-21

2. Miller NS: Addiction Psychiatry: Current Diagnosis and Treatment. New York, Wiley-Liss, 1995, pp 206-225

3. Minkoff K: Models for addiction treatment in psychiatric populations. Psychiatric Annals 1994; 24:412-417

4. Miller NS: Prevalence and treatment models for addiction in psychiatric populations. Psychiatric Annals 1994; 24:399-406

5. First M, Gladis M: Diagnosis and differential diagnosis of psychiatric and substance abuse disorder. Dual Diagnosis: Evaluation, Treatment, Training and Program Development. Solomon J, Zimberg S, Shollar E (eds). New York, Plenum Press, 1993, pp 23-37

6. Anthenelli RM: The initial evaluation of the dual diagnosis patient. Psychiatric Annals 1994; 24:407-411

7. Twelve Steps and Twelve Traditions. New York, Alcoholics Anonymous World Services Inc, 1993

8. Zaslav P: The role of self-help groups in the treatment of the dual diagnosis patient. Dual Diagnosis:Evaluation, Treatment, Training and Program Development. Solomon J, Zimberg S, Shollar E (eds). New York, Plenum Press, 1993, pp 105-126

9. Alcoholics Anonymous: The Story of How Many Thousands of Men and Women Have Recovered From Alcoholism. New York, Alcoholics Anonymous World Services Inc, 3rd Ed, 1976

10. Chappel J: Long-term recovery from alcoholism. Psychiatr Clin North Am 1993; 16:177-187

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The global Hare Krishna sect has floated a new wing to counsel students who are depressed, demoralized and even addicted to drugs.

The International Society for Krishna Consciousness (ISKCON) sect, headquartered in West Bengal's Mayapur town, says distressed students are getting back their zest for life by chanting "Hare Krishna" and listening to regular religious discourses.

The sect's counseling centre, called the Youth Forum, is run at its premises in the city. "We started the forum a couple of months ago and the response has been tremendous," said ISKCON official Ananga Mohan Das.

The forum is now visited by about 176 students "and the number is growing by the day".

At these sessions, held every Sunday, students listen to discourses by ISKCON monks, chant hymns, meditate and discuss their problems with the monks.

"The students come from the best of colleges and universities and also from very reputed families," Das said.

Besides its endeavor with students, ISKCON is planning programmes for reformation in the state's jails.

The sect wants to conduct regular religious sessions in jails in the hope that it would awaken spirituality in convicts and make them better human beings.

The proposal, already submitted to the state government, is that ISKCON volunteers would introduce convicts to meditation and religious discourses.

ISKCON monks want to distribute Hindu religious texts such as the Bhagwad Gita and hold its readings regularly. They also want convicts to chant "Hare Krishna".

ISKCON philosophy says a convict is not to be blamed for his crime, but it is society that is responsible because it could not impart the right lessons to the sinner.

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This study determines the substance use and abuse patterns among patients with comorbid substance-related disorder (SRD) and dysthymia in SRD-dysthymia as compared with patients with SRD only.

Differences in use and abuse patterns could be useful for (a) understanding motivations for use, such as self-treatment, and (b) assisting clinicians to identify cases of dysthymia among SRD patients. Retrospective and current data were obtained regarding history of substance use and current SRD diagnoses.

Two university medical centers with alcohol-drug programs located within departments of psychiatry were the settings. A total of 642 patients was assessed. of whom 39 had SRD-dysthymia and 308 had SRD only. Data on past usc were collected by a research associate using a questionnaire. Current SRD and dysthymia diagnoses were made by psychiatrists specializing in addiction.

The patients with SRD-dysthymia and SRD only did not differ with regard to use of alcohol, tobacco, and benzodiazepines. The patients with SRD-dysthymia started caffeine use at an earlier age, had shorter "use careers" of cocaine, amphetamines, and opiates, and had fewer days of cocaine and cannabis use in the last year. They also had a lower rate of cannabis abuse/dependence. This study indicated that patients with dysthymia and SRD have exposure to most substances of abuse that is comparable to patients with SRD only. However, they selectively use certain substances less often than patients with SRD only. Early use of caffeine may reflect self-treatment for depressive symptoms among patients with SRD-dysthymia.

Eames SL, Westermeyer J, Crosby RD.
Minneapolis VA Medical Center, Department of Psychiatry, University of Minnesota, USA.

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Treating Chemical Dependency and Co-Occuring Disorders

Our integrated treatment system addresses dual diagnosis (co-occuring substance abuse and mental health diagnosis) disorders simultaneously. Individualized treatment planning with certified, experienced counselors incorporates short and long-term goals to ensure that clients special needs are met. At the same time, continuing care planning assists the client in developing healthy strategies for maintaining sobriety after treatment.

Each dual diagnosis client consults with our staff physician to focus on adjusting treatment to fit their particular needs. In order to be effective, medications must be taken consistently. Often, addicts still "in the disease" have difficulties following through with medication schedules. At Support Systems Homes' treatment centers, when clients are prescribed medication, staff assist clients in developing a regular, consistent schedule that has the maximum potential of providing benefits.

Support Systems Homes recognizes the importance of coordinating services for clients with co-occurring disorders. Our treatment center staff provide transportation to outside appointments, work with the client's mental health team, help the client access the necessary resources, and encourage family involvement in the process of recovery.

We provide the following CARF-accredited services for those with co-occuring chemical dependency and mental health diagnoses: Detoxification, Residential Treatment, Day Treatment, and Outpatient services. Sober living environments that provide social and recovery support are available as well. Dual diagnosis clients are also encouraged to participate in free lifetime aftercare and Alumni activities after treatment.

Those who struggle both with serious mental illness and substance abuse face problems of enormous proportions. Mental health services are often not well prepared to deal with patients having both afflictions. Often only one of the two problems is identified. If both are recognized, the individual may bounce back and forth between services for mental illness and those for substance abuse, or they may be refused treatment by each of them.

While the picture regarding dual diagnosis has not been very positive in the past, there are signs that the problem is being recognized and there is an increasing number of programs trying to address it. It is now generally agreed that as much as 50 percent of the mentally ill population also has a substance abuse problem. The drug most commonly used is alcohol, followed by marijuana and cocaine. Prescription drugs such as tranquilizers and sleeping medicines may also be abused. The incidence of abuse is greater among males and those in the aged 18 to 44. People with mental illnesses may abuse drugs covertly without their families knowing it. It is now reported that both families of mentally ill relatives and mental health professionals underestimate the amount of drug dependency among people in their care. There may be several reasons for this. It may be difficult to separate the behaviors due to mental illness from those due to drugs. There may be a degree of denial of the problem because we have had so little to offer people with the combined illnesses. Caregivers might prefer not to acknowledge such a frightening problem when so little hope has been offered.

Substance abuse complicates almost every aspect of care for the person with mental illness. First, these individuals are very difficult to engage in treatment. Diagnosis is difficult because it takes time to unravel the interacting effects of substance abuse and the mental illness. They may have difficulty being accommodated at home and may not be tolerated in community residences of rehabilitation programs. They lose their support systems and suffer frequent relapses and hospitalizations. Violence is more prevalent among the dually diagnosed population. Both domestic violence and suicide attempts are more common, and of the mentally ill who wind up in jails and prisons, there is a high percentage of drug abusers.

Given severe consequences of drug abuse for the mentally ill, it is reasonable to ask: "Why do they do it?" Some of them may begin to use drugs or alcohol for recreational use, the same as many other people do. Various factors may account for their continued use. Probably many people continue their use as a misguided attempt to treat symptoms of the illness or the side effects of their medications. By "self-medicating," they find that they can reduce the level of anxiety or depression -- at least for the short term. Some professionals speculate that there may be some underlying vulnerability of the individual that precipitates both mental illness and substance abuse. They believe that these individuals may be at risk with even mild drug use.

Social factors may also play a part in continued use. People with mental illnesses suffer from what has been called "downward drift." This means that as a consequence of their illness they may find themselves living in marginal neighborhoods where drug use prevails. Having great difficulty developing social relationships, some people find themselves more easily accepted by groups whose social activity is based on drug use. Some may believe that an identity based on drug addiction is more acceptable than one based on mental illness.

This overview of the problem of drugs and mental illness may not be a very positive one. However, there are some encouraging signs that better understanding of the problem and potential treatments are on the way. Just as consumers and families have faced other very troublesome problems in the past and developed adequate responses to them, they can also learn to deal with this one in a way that their lives become less troubled and better treatment is received.

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Treatment Programs For Those with Dual Diagnoses As many have probably discovered, service systems have not been well designed with this population in mind. Typically a community has treatment services for people with mental illness in one agency and treatment for substance abuse in another. Clients are referred back and forth between them in what some have called "ping-pong" therapy. What are needed are "hybrid" programs that address both illnesses together. Development of these programs locally requires considerable advocacy efforts.

Limitations Of Traditional Drug Treatment Programs Treatment programs designed for people whose problems are primarily substance abuse are generally not recommended for people who also have a mental illness. These programs tend to be confrontive and coercive and most people with severe mental illnesses are too fragile to benefit from them. Heavy confrontation, intense emotional jolting, and discouragement of the use of medications tend to be detrimental. These treatments may produce levels of stress that exacerbate symptoms or cause relapse.

Characteristics Of Appropriate Programs

Desirable programs for this population should take a more gradual approach. Staff should recognize that denial is an inherent part of the problem. Patients often do not have insight as to the seriousness and scope of the problem. Abstinence may be a goal of the program but should not be a precondition for entering treatment. If dually diagnosed clients do not fit into local Alcoholics Anonymous (AA) and Narcotics Anonymous (NA) groups, special peer groups based on AA principles might be developed.

Clients with a dual diagnosis have to proceed at their own pace in treatment. An illness model of the problem should be used rather than a moralistic one. Staff need to convey understanding of how hard it is to end an addiction problem and give credit for any accomplishments. Attention should be given to social networks that can serve as important reinforcers. Clients should be given opportunities to socialize, have access to recreational activities, and develop peer relationships. Their families should be offered support and education.

Advocacy For Effective Treatment

If no appropriate programs exist in the community, families of dually diagnosed persons may need to advocate for them. References listed below describe a number of experimental programs that can serve as sources of information. Advocacy should also be directed at research and training. One program (Sciacca,1987) uses an educational approach and recognizes the tendency for dually diagnosed individuals to deny their problem. The client does not have to recognize or publicly acknowledge that he or she has a problem. Clients meet in a group and talk about the issue of substance abuse, view videotapes and involve themselves in helping others. Only later do members get around to talking about their problem and the potential for treatment. A non-confrontational style is maintained throughout. Rather than send participants to AA or NA, members of these groups are invited to visit the agency. Eventually some of Sciacca's groups do go to AA and NA.

Recognizing The Problem

As mentioned, many families do not recognize that their mentally ill member also has a substance abuse problem. This is not surprising because many of the behavioral changes that lead to suspicion of drug problems in other people already exist in persons with mental illness. Therefore, such behaviors as being rebellious, argumentative, or "spacey" may be less reliable clues in this group. Observation of some of the following behaviors, however, may put families on the alert:

Suddenly having money problems Appearance of new friends Valuables disappearing from the house Drug paraphernalia in the house Long periods of time in the bathroom Dilated or pinpointed eyes Needle marks

Of course, there are also those individuals who react strongly to drugs and alcohol and whose unusually chaotic behaviors leave little doubt regarding the use of drugs.

Addressing The Problem

This may or may not involve confronting the individual. It is usually best not to immediately and directly accuse the individual of using drugs because denial is a likely response. Unless one has irrefutable evidence, the person is entitled to be presumed innocent. What one can object to are behaviors, whether or not they are known to be influenced by drugs, which are interfering with family life.

These behaviors may take any number of forms: apathy, irritability, neglect of personal hygiene, belligerence, argumentativeness, and so forth. Since the problem of drug use is a very serious and complicated matter, it should be addressed in a careful deliberate manner. It is best not to try to deal with the individual when he or she appears to be under the influence of drugs or alcohol, nor when family members are feeling most emotionally upset about the situation. Avoid making dire threats such as calling the police, resorting to hospitalization, or exclusion from the home unless you really mean to do it. There is a risk that you may say things under the stress of the situation that you don't mean. It is important that your relative knows where he or she stands with you and that you mean what you say.

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Developing A Plan Of Action

Since it is likely to be difficult at best, select a time when things are relatively calm to decide what to do. Involve as many members of the family as possible and develop an approach all can agree upon.

Then the family must follow through. This works better if alternate housing can be arranged ahead of time so that the streets do not become the only option. Families often ask if the family should insist on total abstinence from all drug use. While authorities in the field point out that abstinence is by far the safest option, some families may find that tolerance of occasional use or agreement to cut back may get reasonable cooperation whereas insistence on total abstinence will result in denial and inability to communicate further on the subject. Recreational drugs and alcohol and prescribed medications might have serious interactive effects. Clients and families need to be fully informed about these possibilities.

Support And Self-Care For The Rest Of The Family

Coming to terms with chemical dependency of a mentally ill relative does not come easily. For a time, it may just feel too painful, too bewildering, too overwhelming to face. The family may feel terribly angry at the ill person and blame him or her for seeming so stupid, so weak-willed as to add problems of substance abuse to an already highly disturbed life. Feelings of anger and rejection, unfortunately, do not help the situation and can delay rational thinking about how to approach the situation. Parents and siblings may be hurt because the addicted person blames others for his or her problems and breaks trust by lying and stealing, and in general, by creating chaos throughout the household. A great deal of fear and uncertainty may prevail as behavior becomes more irrational and violence or threats of violence increase. Members of the family may feel guilty because they feel their relative's substance abuse is in some way their fault.

First, it is important to realize that substance abuse is a disease. The person who is truly addicted is no more able to take control of this problem without help than he or she is able to take control of their mental illness. Thinking of this problem as a disease may reduce the sense of anger and blame. Family members may learn to take negative behaviors less personally and feel less hurt. People may cease blaming themselves and each other for a disorder that no one could have caused or prevented. Coming to terms with substance abuse in someone you love will take time. It will be easier if the family can close ranks, avoid blaming each other, agree on a plan of action, and provide support to each other.

It is also important to seek support from other families who are dealing with similar problems. This subset of families in the local NAMI affiliate may find it beneficial to meet separately at times to provide support in a way best done by other people who also have the problem. Families may want to investigate their local Al-Anon and/or Narcotics Anonymous (NA) groups. These support groups have proven to be immensely helpful to some families.

Finally, families should realize they cannot stop their relative's substance abuse. They can, however, avoid covering it up or doing things that make it easy for the person to continue the denial. Families can learn what they can do about the problem, but they must be realistic that much of it is out of their hands. With great effort, some of the painful emotions will subside, members will feel more serene, and life can be worthwhile again.

For the most comprehensive information about Depression, visit our Depression Community Center here, at HealthyPlace.com.

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