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From Section 19.3 Gender Identity Disorders of the Comprehensive
Textbook of Psychiatry, Seventh Edition (2000) (section contributed by
Richard Green, M.D., J.D. and Ray Blanchard, Ph.D.):

SUBTYPES
<snip>
DSM-IV subtypes are
(1) sexually attracted to males
(2) sexually attracted to females
(3) sexually attracted to both
(4) sexually attracted to neither
<snip>

ETIOLOGY
Much empirical evidence suggests that the three main types of nonhomosexual gender identity disorder in males (heterosexual, bi
sexual, and asexual) are superficially variant forms of the same condition; that nonhomosexual and homosexual gender identity disorder
are etiologically different conditions; that nonhomosexual gender identity disorder is etiologically related to transvestic fetishism; and
that homosexual gender identity disorder is etiologically related to typical homosexuality.

The conclusion that heterosexual, bisexual, and asexual gender identity disorders are superficially variant forms of the same condition is based on a wide variety of evidence. Similar majorities of men with heterosexual, bisexual, and asexual gender identity disorder acknowledge some history of transvestic fetishism; such self-reports are rare in men with homosexual gender identity disorder. Men with heterosexual, bisexual, and asexual gender identity disorder are also similar to each other, and dissimilar to men with homosexual gender identity disorder with regard to their degree of recalled childhood femininity, age at clinical presentation, extent of interpersonal heterosexual experience, and a history of erotic arousal in association with thoughts of being a woman.

It is possible that the common denominator linking transvestic fetishism and heterosexual, bisexual, and asexual gender identity disorder is autogynephilia, a male's tendency to be sexually aroused by the thought or image of himself as a woman. Autogynephilia is highly variable in its manifestations. It may be expressed in fantasies of dressing as a woman (transvestic fetishism); in (masturbatory) fantasies of engaging in stereotypically feminine behavior like knitting; in fantasies of gestating, lactating, or menstruating; in fantasies of being treated by other people as a woman; or in fantasies of possessing a woman's body. When an autogynephilic man's favorite sexual fantasy is that of possessing a vagina, he is very likely to develop cross-gender wishes that persist even when he is not sexually aroused, along with a desire for surgical sex reassignment.


Autogynephilia may be conceived as a modified form of heterosexuality, in which a man's sexual approaches are directed not at external women but at a feminized version of himself. It seems to involve some developmental anomaly in the learning of sexual behavior, because the man's principal erotic object in many cases-for example, the thought or image of himself wearing pantyhose, applying make-up, or knitting-cannot be innate but must have been assembled from experiences. It remains to be discovered whether some men are relatively prone to such developmental anomalies for neurological reasons.

The conclusion that homosexual gender identity disorder and typical homosexuality (i.e., homosexuality without gender identity disorder)
have etiological commonalities is based on two lines of evidence. The first is that the early manifestations and homosexual gender identity disorder appear rather similar. Research has consistently shown that at least 50 percent of asexual men with no gender identity problems nonetheless recall significant amounts of cross-gender behavior in childhood. Similar although somewhat less striking findings obtain for homosexual women. These observations suggest that the difference between ordinary homosexuality and homosexual gender identity disorder begin as a difference in degree, which develops during adolescence into a difference in kind, when the less severely affected children shed their cross-gender traits and the more severely affected children elaborate them into a full-blown cross-gender identity. The second line of evidence is epidemiological in nature and pertains only to males. Research on homosexual men without gender identity disorders has established that homosexual men are on average born later in the sibling order than comparable heterosexual men. Recent studies have established that this difference in birth order is caused by homosexual males having a greater number of older brothers; they do not have a greater number of older sisters, once their number of older brothers has been taken into account. Studies of Dutch, Canadian, and British male patients with gender identity disorder have produced the
similar finding that homosexual patients are on average born later than nonhomosexual patients. These observations suggest that  whatever etiological factor is reflected by high birth order contributes to the development both of homosexuality and of homosexual gender identity disorder.


The foregoing discussion illustrates that theories developed to explain homosexuality or transvestic fetishism may also apply to homosexual or nonhomosexual gender identity disorder respectively. Furthermore, theories developed to explain gender identity disorder without further qualification may apply to only one of the two main types.

BIOLOGICAL FACTORS


Theories of homosexual development, notably in males, have taken on an increasingly biological basis as opposed to an experiential one.

Genetic Factors


The Franz Kallmann twin study of the 1950s found a 100 percent concordance for homosexuality between presumably monozygotic male twins. Further research indicated discordant pairs, and methodological critiques of the Kallman study resulted in a general decline of interest in the genetic basis. However, in recent years twin studies and other family studies of sexual orientation have promoted new interest. A 1991 study of 56 male monozygotic pairs of twins raised together found a 52 percent concordance for homosexuality compared with 22 percent for 54 dizygotic pairs. A 1992 study found that of 71 female monozygotic twin pairs, 48 percent were concordant for homosexuality or bisexuality compared with 16 percent for 37 dizygotic pairs. Monozygotic twins separated at birth, although rare, provide a better model for testing the relative influences of environment and genetics than do twins reared together, where the two factors are confounded. A report of two pairs of males separated at birth argues for an inherited influence on homosexual orientation. In one pair, both men were homosexually oriented. In the second pair, one twin was homosexual, and the other, while heterosexually married, had had a 3-year homosexual relationship in adolescence. By contrast, in four pairs of separated female-female twins where one twin in each pair was lesbian, none of the cotwins was lesbian.


Family studies of nontwin siblings of homosexual men and women also lend support to a genetic basis, although the confound of a similar environment is considerable. Two studies found higher rates of homosexuality in brothers than is expected in the general male
population. No corresponding increase in the number of lesbian siblings was reported. Two gene linkage studies add further weight to a genetic basis of male homosexuality. When families are selected for having male homosexuals on the mother's side of the family tree, and two of the mother's sons are homosexual, there is an increased probability of a marker for a shared gene on the sons' X chromosome (contributed by the mother). The marker is less often shared between a homosexual and a heterosexual brother.

Hormonal Factors


Evidence for a hormonal influence on gender identity disorder derives from several research sources. One possible source is congenital virilizing adrenal hyperplasia. Girls his condition overproduce adrenal androgen from before birth. They are more rough-and-tumble, less interested in doll play, and likely to be considered tomboys than girls without the condion. Conversely, there is limited evidence that prenatal exposure of males to estrogenic or progestational agents may reduce the expression of conventional boy-type behaviors. Atypical levels of sex-typed hormones before birth and the attendant effects on specific sex-typed behaviors can substantially modify the child's early social experiences. Boys who are disinclined to rough-and-tumble play or who play with dolls have different father-son and mother-son relationships and a different peer group experience from more conventionally masculine
boys. Similarly, girls who prefer rough-and-tumble activity and sports to doll play have a different early socialization experience with
parents and peers from girls who are conventionally feminine. Thus, hormonal influences may act through a pathway of affecting sex-typed behaviours that interact with socialization experiences. Reported neuroendocrine and neuroanatomical differences also suggest an inborn contribution to sexual orientation, particularly in men. One phenomenon tested is the feedback response on luteinizing hormone (LH) after an intravenous pulse of estradiol. In women there is a marked rebound after an initial drop (the hormonal basis of ovulation). The original research found an attenuated female-like response in homosexual men, which theoretically reflected a deficiency in prenatal androgenization of the central nervous system (CNS). In another study using the same methodology, more than a sample of homosexual men showed a response more like that of the heterosexual women than of the heterosexual men in the study.

However, a subsequent study, which used a different approach to elicit the luteinizing hormone feedback
phenomenon, found no significant group difference, and another study with a methodology similar to that used in the original research also failed to confirm a difference. A related phenomenon that suggests that a deficiency in male in utero leads to a homosexual orientation in men derives from the prenatal stress theory.


Stressing pregnant rodents results in feminized behavior in male offspring, owing either to the competition between adrenal stress
steroids and testicular androgens or to the mistiming of testicular androgen secretion as a result of stress. In one study a higher-than-average rate of homosexuality was found in men who were born in Germany between 1941 and 1946, the stressful years of World War II. However, an environmental explanation is also possible, because fathers were more likely to be away from their sons during the war. A second study, based on retrospective reports by homosexual, bisexual, and heterosexual men describing stress in their mothers, found more stress during the pregnancies of the mothers of homosexual men. Other research has been less supportive of an association between stress and homosexuality. Some research found no connection. One American study found a marginally significant relationship, based on the reports of mothers of college students. Another found a low correlation between reported pregnancy stress and lesbianism, but not with male homosexuality. No prospective studies are reported. Although medical histories given by parents of children with gender identity disorder do not provide a basis for grossly abnormal hormone levels before birth, a neuroendocrine base may still be posited at a more subtle level. If the range of prenatal androgen levels is as wide
as that in adult life, the fetus may also be exposed to a wide range of androgen. Another factor could be the androgen surge that occurs in boys between about 3 weeks and 3 months of age.

Immunological Theories


Two immunological theories have been advanced to explain the finding that homosexual men (including those with gender dysphoria of the homosexual subtype) have a greater average number of older brothers than do heterosexual men. Both theories propose that male homosexuality may result from a maternal immune reaction, which is provoked only by male fetuses and which becomes stronger after each pregnancy with a male fetus. The earlier theory proposed that antibodies to testosterone, produced by a woman pregnant with a male fetus and passed through the placenta from the mother to the fetus, could reduce the hormone's biological activity and thus compromise the sexual differentiation of the fetal brain. This seems unlikely because steroid hormones are not ordinarily antigenic. An alternative theory is that the relevant fetal antigen might be one of the male-specific, Y-linked, minor histocompatibility antigens, often referred to collectively as H-Y antigen. Although there is no direct evidence for this theory, it is consistent with a variety of observations, including the finding that male mice whose mothers were immunized to H-Y prior to pregnancy are much less likely to mate successfully with receptive females.

Brain and CNS Involvement


A difference in a nucleus of the anterior hypothalamus may represent a CNS difference related to sexual orientation. The area known as
interstitial nucleus of the anterior hypothalamus-3 (INAH-3) was compared in autopsy between homosexual men, heterosexual men, and
heterosexual women. Although there was some overlap between the size of the nucleus between the groups, it was smaller on average in the homosexual men and women compared with the heterosexual men. All the homosexual men and some of the heterosexual men and women had died of acquired immune deficiency syndrome (AIDS), but death from AIDS was not a factor. No homosexual women were studied to determine whether the size of their nucleus was similar to that of the heterosexual men. INAH-3 is embedded in the hypothalamic area that appears to be related to some aspects of sexual behavior in male nonhuman primates. This study has neither been confirmed nor refuted by subsequent research. Another finding, of a larger suprachiasmatic nucleus in a sample of homosexual
men, may be less relevant because that area is not known to be associated with sexual behavior. However, it may be related to endocrine function. A more recent finding points to a difference in the brain of male-to-female transsexuals. In a post mortem sample of 6, the bed nucleus corresponded in size to that of typical females rather than to that of typical males; it was not relevant whether the male transsexual was heterosexual or homosexual.


Psychosocial Theories


Psychodynamic and behavioral influences may lead to extensive cross-gender identification. In an early study boys with an excessive
mother-son symbiosis in the early years, replete with extensive mother-son skin-to-skin contact, appeared later to manifest significant
feminine behavior. This is attributed to the inability to differentiate psychologically from the mother. Male- identified females have been
reported to have mothers who were removed in affect from their children, frequently by depression, and fathers who did not support their
daughters' femininity. The girl becomes a substitute husband to treat the mother. Other reports describe traumatic psychological losses to boys and girls in the earliest years that appear related to the onset of cross-gender behavior. Research on a sample of 66 boys with gender identity disorder found a positive correlation between the extent to which parents supported cross-gender behaviors in their sons and the extent of that cross-gender behavior. In most of the families at least initially there was no discouragement of cross-gender behaviors. In more limited work with girls with gender identity disorder, initial parental reactions were similar. A study of cross-gendered boys found the extent of father-son involvement in the early years to be related to later sexual orientation. The association emerged not only between the two groups of boys studied (gender identity disorder and control) but within the subgroup of boys with gender identity disorder. Less father-son involvement was associated with a more homosexual orientation.

Social Learning Theories


Social learning theories typically focus on the differential reinforcement by parents of sex-typed behaviors, starting shortly after
birth. This reinforcement shapes conduct into conventional masculinity or femininity. Cause and effect are hard to distinguish here. On the one hand, sex differences are reported early in life, probably before any major differential impact of parental reinforcement; on the other hand, mothers and fathers apparently treat male and female newborns differently.


In Baby X experiments adults are told, sometimes incorrectly, the sex of a clothed child and asked to describe the child's attributes or to
provide it with toys. Perceived boys are encouraged more to physical action and are given more whole-body stimulation than perceived girls. When 6-month-old children were similarly clothed, toy choice by adults was related to perceived gender of the child. Boys were presented with footballs, girls with dolls. Strong bald babies were seen as male, soft fragile ones as female. At 1 year, boys may be more exploratory and active and toy preferences may differ. Girls were found to prefer soft toys and dolls whereas boys preferred transportation toys and robots. A preference for same-sex playmates emerges early. When 31/2- to 41/2-year-olds were shown
photographs of boys and girls and asked to select those with whom they would like to play, boys preferred boys and girls preferred girls. By age 2 to 3 years, boys appear to be more aggressive toward peers and to show more rough-and-tumble play. Fathers are as likely to give a 1-year-old daughter a truck as a doll but more likely to give the son a truck. However, when children are given dolls, boys play with them less than girls. Fathers more than mothers give negative responses to boys playing with dolls. Boys receive more positive responses for playing with blocks and girls receive more positive responses for playing with dolls.

Imitative and vicarious learning pervade general theories of social learning of sex typing. In imitative learning, behaviors are adopted
that simulate those of a significant other person, the model. In vicarious learning, if something happens to a model the viewer's behavior is modified to resemble the model because the child perceives the model as possessing desirable attributes or obtaining desirable
goals. The cognitive developmental theory, by contrast, sees the child first labeling itself as male or female and then finding the behaviors associated with that label rewarding.

Nature Versus Nurture

The classic research on intersexed or hermaphroditic children pointed to the early-life emergences of gender identity as being influenced primarily by environment and as irreversible. In the studies by John Money, Joan Hampson, and John Hampson, a range of anatomical features discordant with the gender of rearing were found to be less relevant to the adoption of a male or female gender identity than the gender of rearing.

Studies of matched pairs, for example, demonstrate that with the syndrome of congenital virilizing adrenal hyperplasia, the newborn
female, if considered to be male and designated male, matures with a male identity in spite of having the XX female chromosomal pattern, ovaries, and a uterus. If considered female the child matures with a female identity. However, questions have been raised about the generalizability of those findings to nonintersexed children because of the atypical prenatal endocrine environment and other atypical genetic or anatomical influences of intersexed children.

Studies of children born with normal sex characteristics who undergo gender reassignment early in life may be a more relevant test of nature versus nurture. The tragedy of penile amputation, usually through negligent circumcision, has provided such a model. In one celebrated case a reassigned male monozygotic twin who was reportedly being raised successfully as a girl failed to incorporate a female identity and now lives as a heterosexual male. Reassignment in that case was at 22 months, which may have been after core identity as a male was in place.


A somewhat more complicated outcome was revealed in the very recent psychosexual follow-up of another biologically normal male whose penis was accidentally ablated during circumcision at the age of 2 months. The decision to reassign as a female occurred sometime between 2 and 7 months, at which point surgical castration occurred. At age 26 years, clinical interviews and self-report questionnaires were used to obtain information on the patient's gender identity, gender role, sexual orientation, and sexual identity. In adulthood the patient lived socially as a woman and her gender identity was unequivocally female, with no evidence of gender dysphoria. However, the patient's childhood gender role behavior had been predominantly masculine, and her current
occupation was male-dominated. Moreover, she fantasized sexually about women more often than about men. On the other hand, her objective sexual history included roughly equal amounts of sexual experience with women and men. At the last follow-up, the patient was living with a new female partner, in a lesbian relationship.

Psychoanalytic Theories


As in other areas of pathology, psychoanalytic theories about gender identity disorder constitute a tradition distinct from biological and
other nonbiological approaches. One influential theory is that of Ethel Person and Lionel Ovesey, who advanced the hypothesis that
transsexualism in males originates from unresolved separation anxiety during the separation-individuation phase of infantile development. To cope with this anxiety, the child resorts to a reparative fantasy of symbiotic fusion with his mother. Adult transsexualism may be understood as an attempt to master that anxiety through sex reassignment surgery, through which the transsexual acts out his unconscious fantasy and symbolically becomes his mother.


According to this hypothesis, male transsexuals vary in the directness with which they proceed to the transsexual resolution. Some individuals never develop any other psychosexual phenomena as defenses against separation anxiety, and they proceed to the transsexual outcome in a straightforward manner. Others develop transvestism or effeminate homosexuality as initial defenses. When those defenses fail in the face of various stressors, the individual regresses to the primitive fantasy of symbiotic fusion with his mother and begins to experience transsexual impulses.


The other major psychoanalytic theory was developed by Robert Stoller to explain the etiology of transsexualism in a specific group of biological males, who would fall within the DSM-IV category of gender identity disorder, sexually attracted to males. Stoller called those males true transsexuals.


The theory begins with the grandmother of the future transsexual who treats her daughter coldly and neither encourages nor models femininity for her. The grandfather has a closer relationship with the daughter, but he encourages masculinity in her. In consequence the mother of the future transsexual develops a mild gender identity disorder of her own. In adolescence, however, she abandons her conscious transsexual wishes of someday being male and adopts a heterosexual façade. At the unconscious level she nevertheless retains a strong penis envy. The transsexual's mother eventually enters an empty and marriage with a passive and withdrawn husband who is psychologically if not physically absent from the household. The final pathogenic process becomes operative when the mother gives birth to an infant son she perceives as particularly beautiful and graceful. The boy, who represents her feminized phallus, fulfills her lifelong wish for a penis. The mother-son interaction, described by Stoller as a blissful symbiosis, includes excessively close and prolonged body contact, sometimes with the infant's nude body cradled against the mother's nude body. The mother's behavior expresses her need to treat her son an extension of her own body.

The transsexual's early experiences, especially the continuous skin-to-skin contact, produce an overidentification with his mother, a
blurring of ego boundaries, and eventually a feminine gender identity. The transsexual boy never develops a "heterosexual" relationship with his mother and therefore never develops an oedipal conflict. His femininity is produced nonconflictually and remains a nonconflictual, autonomous form of behavior. This theory does not account for "secondary" transsexuals, notably those who evolve through a transvestite, heterosexual pattern.