PEDIATRIC MANAGEMENT OF AMBIGUOUS AND TRAUMATIZED GENITALIA*
Milton Diamond, Ph.D.University of Hawai'i, John A. Burns School of Medicine
Department of Anatomy and Reproductive Biology
Pacific Center for Sex and Society
1951 East-West Road
Honolulu, Hawai'i 96822 U.S.A.
Journal of Urology
Special Editor: Jack S. Elder
30 October 1998
Final Disk Submission 11 December 1998
THIS IS A WEB VERSION OF THE NATIONAL KIDNEY LECTURE
ambiguous genitalia, intersex, genital trauma, sex reassignment, cliteroplasty, hermaphroditism, CAH, reductase deficiency, sexual development, AIS,
Contact: (808) 956-7400
FAX: (808) 956-9481
* = Presented at the meeting of the American Academy of Pediatrics, Urology Section
Mosconi Center, San Francisco, CA.
(National Kidney Lecture: 9:25-9:55, 17 October, 1998)
Purpose: To evaluate the present standard of practice in the management of ambiguous and traumatized genitalia.
Materials and Methods: Published cases of intersexuality and protocols for the management of cases of traumatized genitalia are reviewed along with considering the input of intersexed individuals. Independent research on different types of intersexuality is also presented.
Results: The present standard pediatric recommendations and precepts for the management of cases of ambiguous or traumatized genitalia are found wanting. Follow-up studies on which to base treatment decisions are found to be needed. Evidence based principals of medical management are proposed.
Conclusions: A moratorium on sex reassignment cosmetic surgery is recommended. Also recommended is that follow-up studies be instituted on past cases, and honesty and counseling be the core of initial and subsequent treatment.
I would like to first express my thanks to the AAP Officers, those of the National Kidney Foundation, and members of the program committee for having selected me as this year's National Kidney Foundation Lecturer. I have been invited to talk on the Management of Intersex in Israel, Sweden, and Canada so far but am particularly pleased to have a comparable invitation "at home;" to speak to the American Academy of Pediatrics. I consider it an honor and privilege.
Over the last 40 or so years there have been more than a few articles and chapters written about how to manage cases of ambiguous genitalia. Almost all of them offer advice which is based on the work of John Money, and at first, John and Joan Hampson, later with Anka Ehrardt. These investigators, studying intersexed individuals, basically had extrapolated from their clinical research several concepts which they thought would lead to better management 1, 2, 10 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 .9 cm. and a small penis sufficient to warrant surgery was one smaller than 2.5 cm. (e.g.3-7).
These guidelines can still be found in contemporary texts and have basically held, with few modifications, until the present despite their underlying rationale having been challenged starting as early as 1959 by Cappon and colleagues.8 These principals were particularly reinforced by the publication, in the 1970s, of a string of papers reporting on a set of healthy unambiguous monozygotic male twins. One needed attention, due to his penis having been burned off by an overheated electric cautery used for phimosis repair.9, 10 It was recommended that the traumatized child be castrated, have a vulva and vagina fashioned and be subsequently 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.11 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 9, 10, 12, 13 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."9 Reported in professional publications and the national media,14 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" had substantiated 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 clitorides (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 standard of practice to the extent that, in 1996, the American Academy of Pediatrics published:
The only references cited to bolster this supposition were those of John Money and were more than 4016, 2610 and 1117 years old. 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 accumulating. 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.18 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.19, 20 Actually, I believe that transsexuals are intersexed in their brains.
The Second factor was the emergence in the 1990s of intersex support 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 which had intersexed individuals of all categories, was critical. Group membership in ISNA includes adults who were surgically "normalized" as children, generally without being told, and other intersexuals who have not had surgery. Having unsuccessfully attempted to dialogue with medical organizations about their treatment, some intersexuals from these groups have taken to picketing hospitals and conferences.21 Unlike those with neonatally surgically corrected cleft palates, for instance, these intersex patients are condemning physicians for their surgeries and for withholding the truth about their medical condition and treatment.22, 23
A Third factor was a chorus of dissenting voices such as those by myself starting in the 1960s,24-26 and others like Zuger,27, 28 Dewhurst and Gordan,29, 30 Armstrong,31 and others reporting on cases of sex reassignment that didn't work.32-35 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 misassignment as females or to being assigned as females due to micropenis or traumatic loss of the penis. Such individuals then found their "true feelings" were that 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 the neural behavioral biases organized by prenatal genetic-endocrine (androgenic) influences are most strongly activated.24, 25, 36 Probably the most notable of such cases is that of John/Joan, the twin that was reported to have been a successful sex reassignment. Although I had published in 198237 that early indications were that Joan was not doing well as a female it wasn't until H. Keith Sigmundson and I published our long-term follow-up in the Archives of Pediatrics and Adolescent Medicine38 that things came to a head.
I will divide the rest of the presentation to a discussion of the main topics of: a) male sex reassignment, b) female clitoral surgery, c) general comments on intersexed conditions, and d) end with some recommendations.
Evidence against male sex reassignment due to traumatic loss of a penis or due to micropenis.
The classic case of John/Joan, reported on in dozens, if not hundreds of texts, was not the success it had been presented.11, 38 Joan did not accept life as a girl. More often than not she would prefer her brother's toys and reject the girl's dolls and play objects she was given. She preferred rough and tumble play and had difficulties associating with other girls. She preferred to mimic her father more than her mother. Without knowing her history, Joan strongly objected to being a girl.
Many instances document her fighting the female assignment and the high price being paid for such an assignment. She was rejected by both the boys and girls she tried to approach in friendship. They made fun of her due to apparent incongruities between her behavior and her appearance. She preferred to urinate standing to such an extent the other girls at school refused her entry in the girl's toilet. Despite being given estrogens starting at age 12 and feminizing as a result (Joan developed breasts and rounded hips) she still developed the general body configuration of a male with broad shoulders and such. The normal genetics of being XY as well as adrenal androgens39 were likely involved.
Things came to a head when Joan was 14. She refused to again go to Hopkins and declared herself a boy; John. John claimed to have recognized he was a boy from the second grade but didn't know how to deal with it since those he trusted most, his family and his doctors, were telling him he was a girl. He essentially recounts that he felt he either had to live as the boy he believed he was or he would suicide.
John's adamant rejection of female living and improved demeanor and disposition when acting as a boy convinced the local therapists of the correctness of the sexual re-reassignment. The switch was followed by testosterone treatment, a desired mastectomy to remove the estrogen induced breast development, and subsequent fabrication of a phallus by age 16. After the change, not only did John seem to blossom but he was accepted by others as Joan had never been. He currently is married and has several adopted children. Regarding his life and demeanor now it would not be far to say he is very much "Joe Six-pack"; a very self-assured male in a very male-identified occupation with interests and life-style to match.11, 38
Other contemporary reports of cases of sex reassigned individuals have come to light. William Reiner of The Johns Hopkins School of Medicine reported on an Hmong immigrant who precipitously dropped out of school at age 14. On subsequent interview this teen-ager declared, although she was raised unequivocally as a girl from birth, "I am not a girl, I am a boy." Findings from a physical exam revealed a 46 chromosome XY-male with mixed gonadal dysgenesis. Her play and behavior were all male identified while she shunned those typically considered female. She switched to live as a male.40 Reiner further reported on a series of males sex reassigned due to loss of a penis in infancy. Among 6 such, Reiner found their behavior more like typical boys than girls and in two cases, not knowing they were XY, the children autonomously changed gender and assumed male roles. Reiner stated: "it would be wrong to say that these two children wished to be boys or felt they were boys in girl's bodies: they believed they were boys."11 The other four are still too young to say more.
I've followed other cases. One is a case of conjoined twins that was reported on where, due to a single set of male genitals, one was reassigned as a girl and raised accordingly.41 To be sure there were many other medical/surgical/orthopedic problems for this individual. But one of her present requests is that she be allowed to transition as the male she believes she should be.
Another case is that of a well known Olympic figure. He wrote of his story in 1988.42 Erika Schinegger won the Olympic gold medal for Austria for women's downhill skiing in 1966. After the win she was given a sex test and declared unequivocally XY. When told of the test findings she immediately transitioned to living as Erik, a male. Erik said he never truly felt he was a typical girl. He had never been interested in romantic boy friends and was always more attracted to women. As Erika, however, she just thought that was her lot in life. I've interviewed Erik and one of his physicians. None of the physicians she had been seen by previously wanted to tell her of the mistake for fear it would be too psychologically damaging. Switching sex never occurred to her until the condition and situation was revealed. Follow up showed that she was born in a small town, delivered by a midwife, and pronounced a girl due to a severe hypospadic condition. When she was made aware of the situation her transformation to male living was rapid. The hypospadic condition was repaired and her psychological adjustment to the change was appropriate. Erik is now a married ski instructor.
I'll mention one more specific case which I'm following. Some years ago I was called to consult on a child that was said to be a school problem. The child, who I will call Lani, was one of a set of dizygotic male twins that had been sex reassigned as a girl shortly after birth due to ambiguous genitalia. At the age of 6 Lani became a discipline problem soon after entering school. She was getting into fights with the boys and having little to do with the girls who shunned her anyway. Lani was not behaving like the other girls. Shortly after I started to work up this case Lani and family left Hawaii. Only earlier this year did I find out that she had reappeared as a patient of pediatric endocrinologist Melvin Grumbach.43 When last seen, at the age of thirteen, the patient was refusing to take estrogens, greatly disliked her breasts which, she said, "interferes with her ability to play football." She was interested in playing for her school's football team, but the coach and school have refused to let her participate. She did not get along with the other boys. She dressed in a masculine fashion and "hates to wear dresses." It is predicted she will revert to male living. Essentially it appears this seems a mirror of the John/Joan case.
Not only have sex reassignment cases been shown wanting but they may not be at all necessary. Reilly and Woodhouse44 have documented that males with micropenis can live satisfactory lives as males without surgery. Of 20 males studied, a dozen of whom were postpubertal, only 6 admitted to having been teased about a small penis, all 20 individuals studied "felt male," were gynecophilic and all had erections and orgasms. [In discussing intersexed or transsexual persons I prefer to use the terms gynecophilic, ambiphilic, and androphilic to describe the sexual/erotic partners they prefer. This obviates the need to define specifically the sex of the proband and focuses on the sex of the desired partner.]45
Of the dozen postpubertal males in the Reilly and Woodhouse study, nine reported satisfactory sexual relations and seven were married or cohabiting. A paper by van Seters and Slob46 reported success in helping men who presented at their clinic with a very small penis. All were sexually functional. Contrary to anecdote, it is not inevitable that men with micropenis would be shamed to the extent they would be sexual outcasts and better off as females.
Findings from large groups of individuals with ambiguous genitalia caused by reductase deficiency are particularly revealing. Most notable among these are the reports of Julienne Imperato-McGinley47-49 working with intersexed individuals with 5-alpha reductase deficiency from the Dominican Republic, Ariel Rösler50, 51 working with individuals with 17-beta reductase deficiency in Israel and Gaza, and Mendonca and colleagues52 working with 5-alpha patients in Brazil. These investigators found their patients, although reared as girls due to their female appearing genitalia at birth, almost always switched to living as males.
I myself have recently completed a sabbatical working in Israel and Gaza with 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 which frequently reappears. 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 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, sibs, professionals of different specialties and others in Gaza familiar and unfamiliar with this condition.
Intersexed persons interviewed claimed to be aware of not being girls/female from early age on. This was often verbally expressed even before genital masculinization was recognized. Demonstrated male behaviors by an intersexed child were often cause for the parents to first become aware of the condition. Those older individuals that remained living as women did so due to cultural conditions which prevented their switching. They were fully 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. Their sexual orientation, as that of all those that switched to living as males, remained gynecophilic.
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.
One recent report by Bradley, Oliver, Chernick, and Zucker,53 has received a great deal of attention. Here too was an infant male reassigned as a female due to loss of his penis due to cautery circumcision. He knows he is XY but is still living as a woman at the age of 28. This individual, has an occupation listed as one most always filled by men. He has been ambiphilic in the past but is presently gynecophilic. This individual might yet switch to living as a male. I'm aware of at least five other cases where a sex reassignment of a normal male that has lost his penis and then raised as a girl has reverted to living as a male. Now, after some 30-plus years of these surgeries, there is still not a single report of a non intersexed male having been successfully raised as a contented androphilic woman.
Before leaving this topic I want to emphasize that one's sexual profile as a male or female is more than how one identifies. At least five components describe a person in sex and gender. The mnemonic for recalling these are PRIMO: gender Patterns, Reproduction, sexual Identity, Mechanisms, and sexual Orientation.54, 55 In reassignment by surgery the attempt is to structure an individual's identity. Often, however, nothing is affected but what is considered socially appropriate for gender behavior patterns. In the cases spoken of, and even where the individuals remained living as woman, for instance, the general behaviors remain masculine and the preferred love object remains a woman. Aside from adding the insult of infertility and a life long regimen of steroids to the accident of penectomy or micropenis, little is accomplished and at high cost. Few males, given the choice, would opt for a change of sex to resolve a condition of absent or micropenis or to rectify a situation where a penis is lost due to trauma.
Lastly, in discussing such male cases a recent report of the work of Bernardo Ochoa is illuminating.56 He has recently reported that phalloplasty using the stumps of the corpora, even years after a trauma, is a successful alternative to feminine sex reassignment in pediatric patients with loss of the penis. Ochoa reported: "The three patients on whom this technique was performed were followed for 17, 12 and 8 years. At their last visit they had normal erections, normal sensitivity of the penis, and emptied their bladder normally."57
We can conclude: There is no evidence that sex reassignment on normal males or even those with micropenis need or benefit from sex reassignment. There is evidence the procedure is harmful and other options are available. Reconstruction of a traumatized penis is one such option and leaving those with micropenis alone with psychiatric support and androgen therapy as appropriate is another.
Evidence against female surgical reconstruction of large clitoris.
A review of the literature by myself, Schober,58, 59 Kessler60 and others has failed to uncover a single article documenting the hazards, psychological or otherwise, of having a large clitoris. Such females are most often those with congenital adrenal hyperplasia. Most individuals are not aware that a size standard for a clitoris exists, and indeed, in some cases the parents are unaware of an enlarged clitoris until it is pointed out by physicians in the context of recommending surgery. On the contrary, there are reports of such women and their sexual partners enjoying such configurations. I have several of my own patients with partial androgen insensitivity (PAIS) that have told me so. For women who have had clitoral surgery, some retain a capacity for orgasm61, 62 while others complain about pain and insensitivity.62, 63 Research has not shown that any of the reduction procedures in use reliably preserves full erotic sensitivity to adulthood. One study by Costa et al.64 reported that all women in their study with clitoral reduction did have orgasm but 29% of women that had clitoridectomy did not. At best, in any case, an individual having or not having an orgasm is an inexact measure of sexual satisfaction. The needed study comparing the sensitivity and orgasmic response of those women that have had a clitoral procedure with those that have not, has never been done. The procedure thus remains experimental.
Often the clitoral surgery is defended as preserving the women's feeling of self esteem. Often the opposite is the result. Many woman wonder what was so monstrous that required immediate surgery and secrecy. And often the scar tissue that remains either on the genitals or the locus of the tissue graft offers comparable or worse shame. The graft scar is more visible and requires explanation that the genital hypertrophy does not. Further, some girls had their clitiroplasty after they learned of the pleasures that organ can offer. Sent to surgery without their consent or without being informed of its purpose they awoke from anesthesia to find they had lost a valued part of their body. They were angry, in pain and very bitter.
Kessler has polled adult women on their attitudes toward surgery in infancy.60 Women were asked if they would want surgical correction had they been born with a clitoris greater than 1.0 centimeter. Ninety-three percent said they would have not wanted treatment unless the condition was life threatening and the surgery would not reduce pleasurable sensitivity. Over half of the women would not have wanted the surgery even if the condition were unattractive and made them feel uncomfortable; twelve percent of the women would not have wanted the surgery under any circumstance. The responses of Kessler's subjects are consistent with the reasonable view that the roles which procreative capacity and sexual pleasure play in intimate adult relationships are far more important than the normality of prepubertal genital appearance, especially given that the anatomy is almost always concealed. While the clinical and academic debate as to the rationale for such surgery continues59, 60, 64, 65 the pediatric standard of practice makes precisely the opposite ranking. In other words, most women would not want their clitoris operated upon without their permission.
In this regard, Blotcky and Grossman66 compared the emotional stability of adult individuals that had genito-urinary (GU) surgery as children compared with those that had ear-nose-throat (ENT) surgery. There was a significantly higher association of emotional disturbance in those that had GU surgery compared with those that had ENT surgery. Those with previous GU surgery were more likely to need psychiatric help. Surely removing such elective surgery might help alleviate some of these disturbances.
Lastly, in regard to clitoral surgery, one contemporary argument is that "techniques are better now than in the past so sexual function is preserved and the procedure worth while." In a spirited rebuttal against any such surgeries, Chase67 presents evidence that sensitivity is lost and argues, since the old techniques have not been validated by controlled studies certainly any new techniques have not been tested. And, in any case, are unacceptable, even if sensitivity is retained, due to the sense of personal shame, rage, and loss that is induced by the procedure.
Other categories of intersexed patients are of interest. The first such group are persons diagnosed with Androgen Insensitivity Syndrome.68 I now have a population of more than 30 such individuals with both partial and complete AIS that I am following; their mean age is 35. Almost all were assigned as females at birth and raised accordingly. And indeed I think that is the best policy for such individuals if they are 4-7 on the Quigley scale (meaning their genitalia look more female than male).69 Most have accepted their status as women. Their biggest complaint, however, echoes that of the majority of other intersexed individuals interviewed. It is in regard to the lack of help by physicians in understanding their medical condition. Most had to find out about themselves on their own, were refused access to their medical records and not given or offered psychiatric counseling. Only a minority thought secrecy of their condition was appropriate (and then only for the very young, those mentally retarded or those already clinically depressed.) All would have wanted to meet another person with their condition; often they were told something like: "You are a rarity, will never meet another like yourself and should keep your situation secret." Another gripe is the early removal of their gonads without an honest explanation of the rationale for the procedure. Actually there is no need for early removal since tumerogenisis is rare prior to puberty and these women want to be part of the decision making. [It is also interesting to me that the incidence of tumors in such gonads is about 1 in 10 which is seen as justification for gonad removal while no one seriously considers prophylactic removal of breasts in women even though the incidence of breast cancer is more like 1 in 9.] Watchful waiting is the preferred course.
Some difficulty is expressed in sex assignment in that two individuals with PAIS, while teen-agers, switched to live as males from living as the girls they were assigned and reared. They regret their loss of testes.
Another study I'm doing involves individuals with Klinefelter's syndrome. So far I am aware of five such individuals that were reared as males but who have voluntarily switched to living as females. Three of these individuals had multiple surgical repairs done to fashion an appropriate penis from a hypospadic condition; the surgery done without their permission or knowledge as to what was to take place. They would have preferred a vaginoplasty and, indeed, that is what two have subsequently gotten.
Last, I would like to mention two 46-XX true hermaphrodites: both with the identical diagnosis and ambiguous genitalia.4545 One was raised as a girl without surgery. Despite her rearing and trying to adapt, she felt herself to be male. The physicians she went to see until her mid 20's never informed her of her condition. She unhappily lived as a woman until the age of 28 when a friendly counselor advised a change in gender. Until that advice, although this person had seen several physicians asking for help and advice about her condition, she was never told the truth. She switched overnight to living as a male and today is basically androphilic; somewhat ambiphilic. He is happy that he escaped surgery since he now uses both his penis and vagina in ambisexual sexual play. The second hermaphrodite had initially been proclaimed a male and was latter switched to female with accompanying phallectomy. This individual, now completely anorgasmic, lives as a gynecophilic woman but thinks, had she still had her phallus, she would prefer to live as a man. The moral again, one cannot easily predict how an intersexed person would wish to live or with what sort of genitals. The lesson from these situations is to remain flexible in sex assignment and reassignment and with-hold surgery until informed consent can be obtained.
Two new books are relevant for the present discussion. Alice Dreger's book70 documents many cases of hermaphroditism from the 18th and 19th Century. She describes how doubt reigned in the medical management of intersex. Judith Rich Harris, in her book "The Nurture Assumption,"71 argues against the power of parental indoctrination in socialization. Her work also can be taken as against the blue-room/pink-room theory of rearing as influential for sexual development.
A fundamental question arises. If rearing has only minor influence in structuring a person's identity, how do individuals come to "know" who and what they are? I believe they do so by comparing themselves with others. All children have in common that they compare themselves with others as they grow up.72 In so doing they, consciously and unconsciously, analyze their inner feelings and behavior preferences in comparison with those of their peers. One of the most crucial analysis everyone makes is "who am I like and who am I unlike." Consider three different scenarios: typical development; development of a sex reassigned individual; development of an intersexed person. Typical children see themselves as other boys or girls, their interests and overall behaviors are similar, and they easily come to accept their appropriate gender labels. They have no cause to question their identities. Their behaviors and interests have nothing to do with their genitals. Children may be aware of genital differences but, for at least the first six of life, usually do not understand they are crucial for classification of gender.72 Hair length, clothing, and behaviors are the child's typical clues to gender.
The male who is sex reassigned as a female similarly compares self with others and assesses himself different from other girls. At first this is puzzling but at a basic level he comes to recognize his interests are not like those of female peers. Without understanding where or how these feelings develop he knows he is unlike other girls and sees self as a "non-girl;" some sort of freak or alien. With time he sees self as more like those called "boys" but his lack of a penis is puzzling and confusing to him. Parents and others he trusts call him "girl" and he wants to believe them. The secrecy that usually accompanies his sex reassignment doesn't allow him to easily consider another option other than continuing to live as a girl. With much mental struggle and great trepidation, however, the sex reassigned male often comes to the point of thinking "If I am not a girl, and I'm not an "it," then I am probably a boy." He then eventually comes to identify as a boy and look forward to developing into a man with a fabricated penis. While this epiphany usually occurs by puberty, it may occur much later when conditions are more favorable.
The intersexed individual undergoes a somewhat different developmental sequence. With growth, the intersexed child compares self with others and recognizes differences. With a degree of flexibility unavailable to either the typical child or the sex reassigned one, the intersexed child attempts to adjust and "fit in." Frequently, however, this is a difficult process and body and mind are seen in conflict; particularly if his or her genitals are not in concert with the understanding of self. The individual strives to achieve resolution. Eventually, often with much pain and difficulty, the intersexed person integrates self with society identifying as a man, woman or intersex. For every individual the five PRIMO components of the person's sexual profile are evaluated to best integrate personal needs with abilities. This typically is a compromise which melds genetic-endocrine forces with social and cultural conditions.26, 55, 73, 74 Many intersexed individuals raised in one sex revert to the other or live with aspects of both.
In sum, I would like to emphasize four new postulates for dealing with intersexed individuals:
1. Individuals are psychosexually biased at birth.
2. Healthy psychosexual development is related to the appearance of the genitals but not crucially so.
3. Treatment must be individualized. Discuss openly, honestly and fully any doubt as to identity and orientation. Provide options.
4. Allow mature individuals change of gender whenever by informed choice. Be a counselor who is an authority, not one who is authoritarian.
And finally I would like to offer three recommendations based on my clinical experiences and research. These were formulated with my colleague medical-ethicist Kenneth Kipnis. A separate paper on this topic is in the Journal of Clinical Ethics.75
FIRST RECOMMENDATION: That there be a general moratorium on sex assignment cosmetic surgery when it is done without the consent of the patient.
In arriving at this first recommendation, I appeal to you that there is evidence the procedures are often harmful and there is no evidence that normalizing surgery in infancy does more good than harm. No large-scale or even small scale follow-up study with matched surgerized and non surgerized individuals that could confirm this has yet been done.
Because such evidence is lacking, the surgical assignment of sex remains an experimental procedure: one in which the results cannot be properly assessed until at least 20 years after the intervention. And then only by in-depth and candid psychological interviews. Asking one simply if he or she is orgasmic or content with his or her gender is not sufficient.
Accordingly, it is not possible for a patient's parents to give informed consent to these procedures precisely because it is not clearly known what happens to the adults these infant patients become; the appropriate studies, with comparable controls and adequate measures, are lacking and sorely needed. For the physician to take it upon him/her self to effect sex reassignment changes without informed consent would be open to legal and professional criticism.
Gender assignment should take into account the infant's condition, including its causes, and whatever is known about the prognosis.76 All genital conditions cannot be painted with the same brush. Treatment has to be based on evidence rather than anecdote.77 The aim must be to raise infants in a way that will most probably turn out to be comfortable for the maturing child. But gender assignment has to be provisional, subject to revision by the intersexual child as he or she matures.
Leaving an infant with ambiguous genitals requires counseling of the parents in management techniques and insuring they understand it is the sexual functioning of their post pubertal child that is being protected. Cosmetic appearance of the genitals is secondary to erotic function and fertility and any desired change in appearance, if later desired, can be arranged with the child's post pubertal consent. Counseling should be ongoing and include the child as he or she matures.
SECOND RECOMMENDATION: That this moratorium not be lifted unless and until complete and comprehensive lookback studies are done and it is found that the outcomes of past interventions have been positive.
In part, this recommendation emerges from sympathy with the view that early surgery may be medically indicated for some types of intersexuality.
But a stronger justification flows from medical integrity: the ethical commitment to learn as much as we can, even when we make mistakes.78, 79 Luckily, a 20-year double-blind prospective study is unnecessary. There are now many thousands of grown intersexuals who have and who have not had surgical and hormonal treatment. Retrospective psychological and functional outcome studies can now be done on these adults, uncovering the comparative effects of treatment and nontreatment. Considering the thousands of intersexed individuals involved, these follow-up studies should cover the procedures of hypospadic repair as well as cliteroplasty. We all have an obligation to assess the mature products of our work.80
I would be happy to assist anyone, to the best of my ability, in conducting such follow-up studies. Hopefully the American Academy of Pediatrics would lead the way in supporting such research.
THIRD RECOMMENDATION: That efforts be made to undo the effects of past physician deception.
Parents and clinicians have often concealed aspects of surgery and treatment from the child and excluded maturing children from medical management decisions. This practice can take the form of a well-intentioned, albeit deceptive, conspiracy between family and clinicians and against the child.
There is no standard that the pediatrician advise parents to disclose when their child reaches puberty or adulthood or at any other time. Adults who have had these procedures in childhood are now presenting at clinics quite ignorant of their history. (An analogy might be made to the secrecy often surrounding adoption.) Just to the extent that these adults are misled, they cannot act rationally out of a realistic appraisal of their situation.
Typically, patients discover their condition from an inadvertent family slip, community gossip or personal investigation into puzzling aspects of their lives. One must expect that the truth will emerge. And when it does, the patient will learn anyway what she or he was never supposed to have found out. If the patient is going to find out anyway, surely it is better for the physician to initiate disclosure. Even more disturbing than discovering the secret, the former patient also discovers that his or her deformity is unspeakably shameful in the minds of parents and physicians. They wonder why they were not accepted and loved as they were. This makes manifest the fear of romantic/erotic relations and reduces the pursuit of intimate contacts. Last, the former patient learns that she or he has since childhood been systematically deceived by the very people who should have been the most trustworthy; parents and physicians. All this is damaging. Most of it is needless.
I recommend that we find ways to own up to these adults, initiating disclosure of the medical histories which have been concealed. In addition to the ethical obligation, clinicians now even have legal duties to warn their former patients when matters of importance are discovered.81
Although these recommendations are threefold, they speak to a single complex problem. Parents cannot be informed of the expected outcome of the pediatric surgery because the adult outcome studies have not been done. And the adult outcome studies have not been done because these adults have not been informed of the surgery. We may have here an epistemic "black hole" that entraps parents, patients, and physicians in lies, secrets, and avoidable ignorance. While it will take intellectual integrity and professional courage for these pediatric practices to change, I have little doubt the profession will rise to the occasion.
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Thanks are due to the Eugene Garfield Foundation of Philadelphia, Pennsylvania, The Queens Medical Center Research Fund, of Honolulu, Hawaii, and The Lady Davis Fund of Montreal, Canada for supporting aspects of my work. My work in Israel and Gaza was done with the cooperation of the Hebrew University of Jerusalem, Hadassah Hospital (Ein Karem) and the Department of Maternal and Child Health of the Palestinian National Authority. Deep appreciation is expressed to all the intersexed individuals that participated in my research.
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