Intersexed persons have a biologic/medical condition that is not uncommon. It is a diagnosis that is shared by as many as 1 percent of the population.1 It has been estimated that in the United States, the incidence of intersex conditions with ambiguous genitalia is about 1 in 2000; overall, when including those who have typical looking genitalia the incidence approximates 1 in 100 (Fausto-Sterling, 2000). Only those conditions that are accompanied by ambiguous genitalia are detected routinely at birth.
Over the last 40 years there have been a significant number of articles and chapters written about how to manage cases of ambiguous genitalia. Almost all of them offer advice that is based on the work of John Money and, at first, John and Joan Hampson, then later with Anke Ehrhardt. These investigators, studying intersexed individuals, basically had extrapolated from their clinical research several concepts that they thought would lead to better management. While not using these exact words, the following precepts developed.
1. Individuals are psychosexually neutral at birth.
2. Since the appearance of the genitalia is considered crucial, surgery should reduce genital ambiguity. For females. any large clitoris is to be reduced or removed; for males with less than an adequate penis, since it is easier to make a vulva and vagina than a functional penis, the preferred surgical approach is sex reassignment.
3. These basic rules should hold regardless of etiology of the genital ambiguity (or trauma).
4. There should be no change of gender after 2 years of age.
Over time the limits to what constituted a large clitoris came arbitrarily to be one greater than 0.9 cm and a small penis sufficient to warrant surgery was one smaller than 2.5 cm. These guidelines can still be found in contemporary texts despite their underlying rationale having been challenged starting as early as 1959 by Cappon and colleagues (Cappon, Ezrin & Lynes, 1959). They have basically held, with few modifications, until they were most strongly challenged in the 1990s (Diamond & Sigmundson, 1997; Diamond, 1999).
The principles of Money and colleagues were particularly reinforced by the publication, in the 1970s, of a string of papers reporting on a set of healthy monozygotic male twins whose genitals were unambiguous. One needed attention after his penis was accidentally burned off when an electric cautery was used for phimosis repair. It was recommended that the traumatized child be castrated, have a vulva and vagina fashioned and be reared as a girl. This treatment was seen also as an unparalleled opportunity to confirm the theory of sexual neutrality at birth which was being challenged (Diamond, 1965). This sexual neutrality theory might be considered a simplistic “blue room / pink room” construct of sex identity which holds, in essence, that if a child is raised in a “blue room” environment the child will develop into a boy and man and, if raised in a “pink room” environment, the child will develop into a girl and woman.
The twins were evaluated regularly at The Johns Hopkins Hospital and, in a series of celebrated publications (Money & Ehrhardt, 1972; Money, 1973 & 1975; Money & Tucker, 1975), their psychosexual development was described to about the onset of puberty: the one surgically reassigned as a girl and the other identical twin, in effect, a control. Glowingly relating remarkable results, Money wrote in 1975: “No one ... would ever conjecture [that Joan was born a boy]. Her behavior is so normally that of an active little girl, and so clearly different by contrast from the boyish ways of her twin brother, that it offers nothing to stimulate one’s conjectures (Money 1975).” Reported in professional publications and the national media. these writings dramatically confirmed the plasticity of gender: an infant, born as an unambiguous male, had been surgically reassigned as female and successfully reared as a normal girl.
Drawing on this research and theory of psychosexual development, pediatricians caring for infants with ambiguous genitalia inferred that genetic makeup and prenatal endocrinology could be ignored in the clinical assignment of sex. The reported success of the “twin case” substantiated for clinicians the earlier reasoning that the penis had to be plainly absent or present from infancy on, and that these children could be raised as girls or boys with no hint of abnormality. Accordingly pediatric surgeons would strive to benefit these patients by “normalizing” ambiguous genitalia: reducing enlarged clitorises (eliminating visible penis-like structures in babies assigned as females) and, because of the technical difficulty creating functional and cosmetically believable male genitals, refashioning anomalous male genitalia as female. This became the standard of practice to the extent that, in 1996, the American Academy of Pediatrics published:
“Research on children with ambiguous genitalia has shown that sexual identity is a function of social learning through differential responses of multiple individuals in the environment. For example, children whose genetic sexes are not clearly reflected in external genitalia (i.e., hermaphroditism) can be raised successfully as members of either sex if the process begins before the age of 2 years. Therefore, a person’s sexual body image is largely a function of socialization (American Academy of Pediatrics, 1996).”
The only references cited to bolster this supposition were those of John Money and colleagues. Some of these publications were more than 40 years old (e.g., Money, Hampson & Hampson, 1957). In essence, no long-term, large-scale follow-up had been done in all those years to substantiate the claim. Indeed, evidence had been accumulating which refutes it.
At least three major types of evidence against the postulates were apparent. These three factors were most important in challenging the standard of practice (or at least should have been). The First type of evidence was the visible appearance, also in the 1950s and 1960s, of the phenomenon and recognition of transsexualism. Here were obviously a large number of individuals with unambiguous genitalia and unambiguous rearing who were denying both. Social rearing was obviously not having the intended effect even among these seemingly anatomically normal persons. They were certainly saying that the genitals they had were not the ones they thought they should have.
The Second factor was the developing of intersex support groups in the 1990s. These were groups like those for Androgen Insensitivity Syndrome (AIS), Klinefelter’s syndrome, Turner’s syndrome, and patients with congenital adrenal hyperplasia (CAH). In particular, the formation of the Intersex Society of North America (ISNA), as a sort of umbrella organization that was comprised of intersexed individuals of all categories, was critical. Group membership in ISNA includes adults who were surgically “normalized” as children, generally without being told, and others with intersex conditions who have not had surgery. Having unsuccessfully attempted to dialogue with medical organizations about their treatment, some persons from these groups had taken to picketing hospitals and conferences. Unlike those with neonatally surgically corrected cleft palates, for instance, these intersex patients were condemning physicians for their surgeries and for withholding the truth about their medical condition and treatment.
A Third factor was a chorus of dissenting voices such as mine starting in the 1960s (Diamond, 1965, 1976, 1979, and 1996) and others like Zuger (1970, 1975), Dewhurst & Gordan (1963, 1969), and Armstrong (1964), and others reporting on cases of sex reassignment that didn’t work (Burns, Segaloff & Carrera, 1960; Dicks & Childers, 1934; Ghabrial & Girgis, 1962; Khupisco, 1995). These cases were typically individual reports in the literature that told of XY individuals who were somehow reared as girls, usually due to some hypospadic condition leading to a mis-assignment as females or to being assigned as females due to micropenis or traumatic loss of the penis. Despite such rearing these individuals then found their “true feelings” were those of males, which forced them to switch their gender. Most often these switches occurred at puberty. That is the time it would be most anticipated to occur since it is then that the neural behavioral biases organized by prenatal genetic-endocrine (androgenic) influences are most strongly activated.
Probably the most notable report of such a case is that of John/Joan, the twin who was reported to have been a successful sex reassignment. Early indications that Joan was not doing well as a female (Diamond, 1982) preceded a long-term follow-up (Diamond & Sigmundson, 1997a), that eventually led to changed recommendations for surgery. Instead of supporting the original claims that a typical boy could have his gender successfully reassigned to that of a girl, the new report documented the opposite. At the age of 14 years, despite being reared as a girl and undergoing psychiatric counseling and an estrogen regimen to reinforce a female identity, Joan reassigned himself to live as a boy. He never had accepted his original gender reassignment. Other cases where the sex reassignment of intersexed children was rejected also were reported (Ghabrial & Girgis, 1962; Reimer, 1996). These new findings (Diamond & Sigmundson, 1997a), with their implications for general and typical gender development, were reported immediately on the front page of the New York Times and in the pages of other major popular and medical media.2
The new findings in this case indicated that people were psychosexually biased and predisposed at birth. The belief that one’s sexual identity could be modified easily by rearing and that individuals were psychosexually neutral at birth lost its footing and a dramatic shift in thinking about the management of intersex conditions gained momentum. New principles for the management of intersexuality were provided (Diamond & Sigmundson, 1997a).
The most basic recommendation was that the intersexed infants should be assigned a gender that is not based on the appearance of the genitalia and chance of good cosmetic surgery, but on a specific diagnosis of the exact condition and the best prediction of the child’s future choice of identity. It was also recommended that any cosmetic, nonmedically essential surgery be postponed. and that intersexed children and adolescents should be allowed to make their own decisions as to how they want to live and be treated. Other recommendations were that male infants who had a micropenis should be reared as boys, unless evidence for managing them otherwise was presented. This had been successful in the past (Reilly & Woodhouse, 1989) and subsequently was also found to be successful (Wisniewski et al., 2001). The secrecy that most often was recommended to accompany genital surgery and sex reassignment was rejected. Honesty and information was to be provided and it was also recommended that, whenever possible, intersexed persons were to be put into contact with others who have the same condition. It also was recommended that the child and parents be given ongoing counseling.
Other Types of Ambiguous Genitalia
Findings from large groups of individuals with ambiguous genitalia caused by reductase deficiency are particularly revealing. Intersexed individuals with 5-alpha reductase deficiency have been studied in the Dominican Republic, Brazil and elsewhere while individuals with 17-beta dehydrogenase deficiency have been researched in Israel and Gaza as well as elsewhere. These individuals, although reared as girls due to their female appearing genitalia at birth, almost always switched to living as males if the culture allowed (e.g., see Imperato-McGinley, Peterson et al. 1979a; Imperato-McGinley, Peterson et al, 1979b).
I have worked in Israel and Gaza with Ariel Rösler, Ronny Shtarkshall, Rhagda El-Shawa and others. This intersex condition is common particularly among certain Arab groups; there is a great deal of intermarriage among cousins and this is a known genetic trait that frequently reappears. Male individuals with this condition are born with female-looking external genitalia and are raised accordingly. Some 50% of the babies born in Gaza are born at home and the births are attended by a midwife. Close examination of the genitalia is not usual even in communities where intersexuality is not uncommon. This society, as most Islamic ones, is quite sex segregated, and nudity is rare and discouraged. Discussion of any sexual matters, even medical conditions, is considered inappropriate. Modesty is a goal.
Children with a 17-beta dehydrogenase deficiency can look completely female as infants. They masculinize as they mature to puberty. Intersexed individuals living in Gaza, Palestinian National Authority, of different ages, were interviewed. Among these were persons that switched to living as males as well as several adults still living as females. Also interviewed were parents. siblings, professionals of different specialties, and others in Gaza familiar and unfamiliar with this condition.
Intersexed persons who were interviewed claimed to be aware of not being girls/female from early age. This was often verbally expressed even before genital masculinization was recognized. Demonstrated male behaviors by an intersexed child were often the reason for the parents to first become aware of the condition. Those older individuals who remained living as women did so due to cultural conditions that prevented their switching. They were aware they were male but considered themselves socially restrained from switching to live as men and believed they were thus also fulfilling the will of Allah.
Admittedly, there are advantages to living as male in a culture such as that of Gaza. The switch from female to male living, however, seems more due to behavioral and psychological affinities and identity with males as males rather than due to rejection of females or the female condition. Following the switch such individuals seek surgical assistance in reconstruction of their genitalia to remove the chordae, closure of any perineal cleft, and refashioning of the genitalia to look more masculine.
Another condition is deserving of mention: cloacal exstrophy. This is a non-intersex condition in which genetic males have a pelvic field defect resulting in the absence of typical genitalia. Although usually castrated and assigned and raised as girls from birth these children generally declare themselves to be boys and elect to switch from their gender of rearing to live as males. Reiner (2004) has written, “Males who were born with cloacal exstrophy, whether raised as male or castrated at birth and raised as female, demonstrate psychosocially and psychosexually dominant male-typical tendencies. It seems that prenatal androgen exposure (and perhaps sex chromosome-specific neuronal properties) influences gender role, and at least sometimes, creates male sexual identity...
Shift in Stigma: Atypical Versus Disorder
Intersex conditions are no longer seen universally as disorders or errors of development but are increasingly being seen as “variations” of life. This change occurred rapidly among those who are themselves intersexed, but is ongoing among the medical community. It has been advocated that intersexuality be considered and labeled with a more neutral term and seen as a condition without stigma rather than as a disorder (Diamond & Sigmundson 1997b). Humiliation and shame need not accompany and taint the medical or social circumstances - especially where such humiliation and shame result in the need for psychiatric care. Seeing intersexuality as a common variation - rather than as a stigmatizing condition - is an ongoing process, but one that should prove easy for clinicians to eventually adopt and foster. (See also Diamond & Watson, 2004.)
Change in Medical Practices: Standards
Standards of care for intersex conditions have changed markedly. In 2000, the American Academy of Pediatrics modified their standards in recognition of the new evidence (American Academy of Pediatrics, 2000). Similarly, in 2001 the British Association of Pediatric Surgeons modified their standard of care for intersexed children (Rangecroft et al., 2001).
Legal Considerations: Recent Developments
In 1998, the Constitutional Court of Colombia, South America, ruled that sex reassignment of individuals would no longer be legal in that country. The Court’s purported goal was, “forcing parents to put the child’s best interest ahead of their own fears and concerns about sexual ambiguity”(Greenberg & Chase, 2003). The Columbian Constitution guarantees free development of one’s own personality, which implies a right to define one’s own sexual identity.
Early in 2000, a North American Task Force on Intersex was formed. With a broad interdisciplinary board as consultants, their goal is to gather follow-up data from clinics and physicians about their treatments and results regarding intersex management. In 2002, a meeting was held in Phoenix, Arizona, with the specific hope that sufficient new data might be reported. Some new findings were gathered and presented. It was acknowledged, however, that anecdotal reports were still the norm.
Where Are We Now?
Many physicians who formerly reassigned the sex of males who had traumatic early loss of the penis or were born with a micropenis are now more likely to believe that if there were no accompanying intersex condition, such procedures would be a thing of the past. The evidence indicates that past infant cosmetic surgery may not succeed. Procedures exist that can provide a phallus for the affected boy should he desire one. Surgeons also are less likely to reduce an enlarged clitoris in a girl who has CAH. Many others are critically examining how the new and old research regarding intersex treatment should be evaluated. Increasingly, consultation from medical ethicists is being sought. This is a marked step forward.
Two other gender-related matters pertain to psychological management and deserve discussion. One involves dealing with homosexuality. In individuals who are diagnosed as having an intersexed condition, considerations of sexual orientation exist at a different level. This factor deserves discussion with the adolescent. A parallel issue in management is how intersexed individuals are treated when, and if, they present for gender reassignment. These patients often complain that they are not given credit for their own feelings. When they seek reassignment, the attitude with which they are met and the treatment they receive is often similar to that of transsexuals; they feel as if they are made to prove themselves.
Clinical Advice and Summary
The area of intersex syndromes is one of intense activity and transformation. Change is rapid among the intersex populations themselves. Many have come out of their closets in a way that was unheard of only a few years ago and they operate with a new degree of activism. Instead of seeing themselves as men or women, some are identifying openly as intersexed or are willing to mix and match gender and sex.
Clinicians should be open to what their young patients tell them and help them probe their questions and doubts about identities and preferred behaviors. The medical communities are changing markedly. Physicians should be aware of the shifting attitudes and needs of their patients and be aware that one’s sexual profile is complex and is not made up only of what gender-typical or -atypical behaviors are manifest, or what type of sexual orientation is professed. One’s sexual profile is a constellation of a host of factors that should be explored to get a full appreciation of the patient’s feelings and understandings.3 This is not intrusive and usually will be welcomed by those patients who want their therapist to be able to truly understand them. Lastly, it should be kept in mind that all patients, regardless of age, need to be dealt with as individuals, not as a “condition.”