ATTITUDES OF ADULT 46,XY INTERSEX PERSONS TO CLINICAL MANAGEMENT POLICIES

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1 /04/ /0 Vol. 171, , April 2004 THE JOURNAL OF UROLOGY Printed in U.S.A. Copyright 2004 by AMERICAN UROLOGICAL ASSOCIATION DOI: /01.ju b7 ATTITUDES OF ADULT 46,XY INTERSEX PERSONS TO CLINICAL MANAGEMENT POLICIES H. F. L. MEYER-BAHLBURG, C. J. MIGEON, G. D. BERKOVITZ, J. P. GEARHART, C. DOLEZAL AND A. B. WISNIEWSKI From the New York State Psychiatric Institute and Department of Psychiatry, Columbia University (HFLM-B, CD), New York, New York, Divisions of Pediatric Endocrinology (CJM, ABW) and Pediatric Urology (JPG), Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, and Division of Pediatric Endocrinology, Department of Pediatrics, University of Miami, (GDB), Miami, Florida ABSTRACT Purpose: We surveyed a clinic sample of adult 46,XY intersex patients regarding attitudes to clinical management policies. Materials and Methods: All adult former patients of 1 pediatric endocrine clinic in the eastern United States whose addresses could be obtained and who consented to participation were surveyed by a comprehensive written followup questionnaire. Three questions on attitudes concerning the desirability of a third gender category and the age at which genital surgery should be done were presented in the context of ratings of satisfaction with gender, genital status and sexual functioning. Results: A total of 72 English speaking patients with 46,XY, including 32 men and 40 women 18 to 60 years old, completed the questionnaire. The majority of respondents stated that they were mainly satisfied with being the assigned gender, did not have a time in life when they felt unsure about gender, did not agree to a third gender policy, did not think that the genitals looked unusual (although the majority of men rated their penis as too small), were somewhat or mainly satisfied with sexual functioning, did not agree that corrective genital surgery should be postponed to adulthood and stated that their genital surgeries should have been performed before adulthood, although there were some significant and important differences among subgroups. Conclusions: The majority of adult patients with intersexuality appeared to be satisfied with gender and genital status, and did not support major changes in the prevailing policy. However, a significant minority was dissatisfied and endorsed policy changes. KEY WORDS: sex differentiation disorders, sexuality, genitalia, hermaphroditism, gender identity Accepted for publication November 7, Supported by Grant 98-33C from the Genentech Foundation for Growth and Development, and National Institutes of Health, National Research Service Award F32HD08544 and National Center for Research Resources RR In the last decade the clinical treatment of patients with intersexuality has become highly controversial. One of the major disputes concerns the assignment of gender to the intersex newborn. There are conflicting recommendations for which of the various intersex syndromes and for which degree of ambiguity of the external genitalia a gender assignment discrepant with the sexual karyotype and gonadal status should be recommended. 1 4 Moreover, given that some intersex adults see themselves as distinctly nonfemale/nonmale and may have a hermaphroditic identity, 5 some authors advocate the consideration of a third gender or of even more gender categories. 6, 7 Australia has become the first industrialized country known to have removed the legal barrier to such gender assignment by allowing an X, signifying unspecified sex or intersex, in the sex field of passports and the State of Victoria has issued a corresponding birth certificate that lists sex as indeterminate also known as intersex. 8 A second major controversy focuses on early genital surgery for psychosocial reasons, for instance feminizing surgery of the external genitalia for gender confirmation or early vaginoplasty to facilitate later penovaginal intercourse, because of the risks of substantial side effects of genital surgery on erotic sensitivity and orgasmic capacity. Therefore, the Intersex Society of North America, a patient support organization in the United States, demanded in its 1995 Recommendations that any genital surgery not required for strictly medical reasons should be postponed until the intersex individual is old enough to provide informed consent. 9 In line with this request Diamond and Sigmundson called for a moratorium on early genital surgery until appropriate followup studies could generate sufficient data for an evidence based surgical policy. 4 Going further, some intersex activists advocate expanding the Federal Prohibition of Female Genital Mutilation Act of 1996 to genital surgery for intersex children to block further early genital surgery for nonmedical indications. 10 The debate has led to reexamination of pertinent aspects of the current management policy by a growing number of physicians who are involved in the clinical management of intersex patients The Intersex Society of North America refutation of the prevalent optimal gender model of clinical intersex management 15 is based on various individual case histories of problematic clinical management and/or poor outcome. While it has become clear from the ongoing debate that there are indeed intersex patients who are profoundly dissatisfied with major intersex related aspects of their quality of life, it is not certain whether such dissatisfaction is as widespread as the activist literature suggests, nor do we know how many intersex patients share publicized activist attitudes toward the most contentious issues. We documented pertinent data on a clinic sample of intersex adults. MATERIALS AND METHODS Patients. The attitude data presented were collected in the context of a followup study of 46,XY adults who had presented to The Johns Hopkins pediatric endocrine clinic as infants or children with variable degrees of genital ambiguity. Details of the study procedures and medical and behav-

2 1616 SURVEY OF 46,XY PSEUDOHERMAPHRODITES ioral findings have been previously published Of 96 eligible patients who could be located 75 participated in the overall study and 72 answered at least 1 of the questionnaire items that are dealt with in this study. For analysis purposes participants were categorized as having ambiguous genitalia (AMBI), micropenis (MICRO) or female external genitalia (FEG) (table 1). The AMBI group was defined by congenital microphallus with perineoscrotal hypospadias secondary to various intersex syndromes. 18, 19 The MICRO group comprised patients who at birth had micropenis, ie a penile size of 2.5 SD or more below the norm with the urethral meatus at the tip and no hypospadias, and it included hypergonadotropic hypogonadism, hypogonadotropic hypogonadism and idiopathic types. 17, 18 The FEG group consisted of patients born with completely female-appearing external genitalia. Except for a few women with complete gonadal dysgenesis (CGD), 19 the group was mostly women with complete androgen insensitivity (CAIS) 16, 19 with CAIS defined as normal female external genitalia in the presence of testes, spontaneous feminizing puberty without menstruation and without signs of virilization, with markedly decreased or absent postpubertal growth of axillary and pubic hair, and with high testosterone prior to testis removal. In addition, all patients with CAIS were found to have a mutation of the androgen receptor gene. Instrument. Because of the great geographical dispersion of the patients, the overall study used the format of a mailed written questionnaire, followed by a hospital visit during which physical examination was performed. 19 The survey questionnaire covered diverse medical and psychological topics, and was composed of a combination of structured questions with preformed rating scales and of open ended questions The current report covers 3 questions regarding patient attitudes concerning the issue of a third gender and the age at which genital surgery should be performed in the context of 5 questions involving global self-ratings of satisfaction with gender and genital status. Tables 2 to 4 show the exact wording of the questions and response options. Statistical methods. Statistical analysis used descriptive statistics on the total sample as well as exploratory comparisons among subgroups by ANOVA for continuous variables and Fisher s exact test for nominal variables, often after dichotomization of response scales because of low cell frequency. Correlations between select variables were determined by Pearson s r or. Two-tailed testing was used throughout. RESULTS Respondents. Table 1 shows the sample sizes and age distributions of the 3 clinical groups according to respondent gender at questionnaire completion. Sample size varied because of variations in the number of participants who answered individual questions. Nine of the 63 participants were black and the remainder was white. The 5 subgroups differed significantly in mean age (ANOVA p 0.001). However, because age was not correlated with the dependent variables within any comparison groups, no statistical control for age was used in subsequent analyses. TABLE 1. Sample size and age by subgroup No. Pts Mean Age (range) AMBI: Men (22 49) Women (18 54) MICRO: Men (22 52) Women (21 29) Women with FEG (31 60) s (18 60) Gender related issues. Of 66 patients who answered the question 85% stated that they were mainly satisfied with the assigned gender, although 32% reported ever having had a time when they felt unsure about gender (table 2). Only 15% of 59 patients agreed to a third gender policy of avoiding genital surgery and except for 1 woman with CAIS all were in the AMBI sample. As expected, more patients with AMBI and MICRO combined showed dissatisfaction with and past uncertainty about gender, and more endorsed a third gender, but they did not differ significantly from the FEG group. Of patients with AMBI and those with MICRO combined 56% of women compared to 21% of men reported past uncertainty about gender (Fisher s exact test p 0.01) but they were similar in their responses to the 2 other items. The correlations between the third gender variable and the 2 gender experience variables were calculated for the AMBI and MICRO groups combined, the FEG group, combined men with AMBI and MICRO, and combined women with AMBI and MICRO. Only 1 comparison achieved marginal significance. Of combined women with AMBI and MI- CRO those not mainly satisfied with gender were more likely to endorse a third gender than the others (p 0.08). Genital appearance, sexual functioning and attitudes to age at genital surgery. Table 3 indicates that 42% of 71 respondents thought that their genitals looked unusual. Of 31 men 21 (68%) said so and more specifically rated the penis as too small. Nine of the 23 women with AMBI and MICRO (39%) agreed but no women with FEG (CAIS and CGD). The difference between the women with FEG and the other patients was significant (p 0.000), while the difference between combined men with AMBI and MICRO vs combined women with AMBI and MICRO was marginal (p 0.053). Concerning sexual functioning, 45% of 64 patients were mainly satisfied, an additional 28% were somewhat satisfied and 27% were mainly dissatisfied. The FEG group had a higher rate of mainly satisfied patients than the AMBI and MICRO group combined (p 0.04). In the latter 2 groups the women showed the marginally greater rate of mainly dissatisfied patients, ie 45% in women and 18% in men (p 0.057). Table 4 shows attitudes to the age at genital surgery. Of 55 respondents 67% did not agree that corrective surgery should generally be postponed to adulthood and 78% of 45 stated that their genital surgery should have been performed before adulthood, including 47% during infancy (table 4). Women with FEG stood out in mostly endorsing surgery for adulthood (p 0.01). This result was limited to women with CAIS because none with CGD answered this question, presumably because none required vaginoplasty. Of combined patients with AMBI and MICRO 42% of men vs 10% of women endorsed generally postponing genital surgery to adulthood (Fisher s exact test p 0.039) but there was no corresponding difference for their surgery age, perhaps because 4 men with AMBI who endorsed general postponement did not answer the second question. The correlations between the 2 attitude variables, and the 3 variables of genital appearance and sexual functioning were calculated for the same 4 group combinations described. None attained even marginal significance. However, satisfaction with sexual functioning significantly correlated with satisfaction with gender (r 0.29, p 0.024) and typical genital appearance (r 0.49, p 0.001) in the total group, and with typical genital appearance (r 0.71, p 0.002) in women with AMBI. DISCUSSION To our knowledge this is the first study that systematically surveyed an adult clinic sample of 46,XY intersex patients regarding their attitudes to clinical management policies. It presents them in the context of their overall satisfaction with gender, genital status and sexual functioning. The major

3 SURVEY OF 46,XY PSEUDOHERMAPHRODITES 1617 TABLE 2. Gender related issues No. AMBI No. MICRO No. FEG Men Women Men Women Women With regard to your degree of satisfaction in being man or woman, would you rate yourself as: Mainly satisfied (85) Mainly dissatisfied (12) Some thought of being better off belonging to other sex (3) s (100) Did you ever have time in your life when you felt unsure about your gender?: No (68) Yes (32) s (100) Some people say our culture should permit a third gender in addition to male and female so that children born with unfinished sex organs (ambiguous genitalia) would not have to be declared male or female and would not have to have operations performed on their sex organs. Do you agree?: Agree (15) Do not agree (85) s (100) TABLE 3. Genitalia related issues No. AMBI No. MICRO No. FEG Men Women Men Women Women Genitalia look unusual: No (58) Yes (42) s (100) Penis is too small: No (24) Yes (76) s (100) Presently how satisfied are you with your sexual functioning?: Mainly satisfied (45) Somewhat satisfied (28) Mainly dissatisfied (27) s (100) TABLE 4. Genital surgery related issues No. AMBI No. MICRO FEG Men Women Men Women Women Some people argue that children born with unfinished sex organs (ambiguous genitalia) should not be surgically corrected before they are adult and can fully understand and consent to the procedures. Do you agree?: Agree (33) Do not agree (67) s (100) If you have had any operations on your sex organs: by hindsight, do you feel these operations should have occurred: Not before adulthood (22) Not before adolescence (24) Not before elementary school age (4) Not before toddler age (2) During infancy (47) s (99) results stand in contrast to what one hears from critics of the prevailing optimal gender policy of intersex management. 1) The majority of adult patients with intersexuality participating in this study appeared to be satisfied with gender and genital status. 2) The majority did not endorse a third gender option. 3) The majority also did not endorse a delay of surgery to adulthood. 4) By and large, attitude results cannot be explained by simple correlations with gender and sexuality

4 1618 SURVEY OF 46,XY PSEUDOHERMAPHRODITES outcomes. 5) After excluding the FEG group somewhat more 46,XY women than 46,XY men showed past gender uncertainty but fewer 46,XY women tended to view the appearance of their genitalia unusual and fewer such women favored the delay of genital surgery to adulthood. 6) Overall the majority of female assigned 46,XY patients reported satisfaction with gender and genital status, and did not support major changes in the prevailing optimal gender policy. 7) On the other hand, study data confirm that there is a significant minority of patients in a clinic sample who are not satisfied with select aspects of the outcome and/or who take issue with prevailing clinical management policies. While the study results are compatible with our clinical experience and findings in an earlier study, 20 this sample does not permit population estimates. The sample was heterogeneous in terms of endocrine diagnoses, its size was modest and its representativeness is questionable. The source clinic tends to draw patients from a wide geographic area, and the locations and addresses of some patients could not be obtained (27% of the total group). Moreover, some patients refused to participate altogether (22% of eligible subjects) and others did not answer individual questions. If the total clinic population of intersex adults were included, whether and to what extent the pattern of responses would change is impossible to gauge. Thus, a replication of the study in other patient samples is highly desirable. Also, the relatively superficial questions used must be complemented by more detailed interview explorations of the complex issues under debate. However, one must keep in mind that the representativeness of the case histories on which activists base their critique and suggestions for change is totally undocumented and suspect given the understandable bias implicated in the activist role. This statement is not meant to deny the value of activist work in this area. It is largely due to activist efforts that an overdue reassessment of clinical management policies in view of epochal societal changes 15 has been initiated. However, policy revisions today should be based on more systematic empirical evidence than dramatic testimony by individuals with unfortunate clinical experiences and outcomes whose representativeness is unknown. It is quite conceivable that the activist material is too negative and the data from clinic samples are too positive. Thus, collaboration between clinicians and activists is called for. The data reported raise several intriguing clinical issues. About a third of patients had experienced a time in their lives when they felt unsure about their gender, although at evaluation only 15% did not rate themselves as mainly satisfied with gender (table 2). In the AMBI and MICRO groups combined the rate of past gender uncertainty in women was more than double the rate in men. These data suggest that some intersex patients, especially 46,XY patients raised female, who experience problems with gender identity during development find ways other than gender change to resolve such problems. From our clinical experience it seems likely that professional counseling or therapy may facilitate such a resolution but to our knowledge systematic evidence of such effects has not yet been provided. Eight of 34 patients with AMBI, that is 4 women and 4 men, but none of the 14 with MICRO endorsed a third gender option (table 2). Whether differences in sample size and in the rate of patients who were not mainly satisfied is a sufficient explanation cannot be decided by the current data. Also, sexual dissatisfaction was particularly high in women with AMBI, although relatively more men considered the appearance of their genitalia to be unusual. Correlation data suggest that problems with genital appearance (and for the total sample and to a lesser extent also problems with gender identity) are associated with an unsatisfactory sexuality outcome but the direction of causality is uncertain. Considerable larger sample sizes and more detailed assessment protocols, including qualitative interviews, are needed to explain these findings and improve clinical management accordingly. Our intent in reporting the current data is to point out that intersex patients as a group are highly diverse in their response patterns. The challenge for those who are in a position to change the prevailing guidelines is to examine thoroughly the existing evidence and obtain additional data when needed to provide a solid footing for management policy changes. CONCLUSIONS In the majority of our sample of intersex adults the longterm outcome appears to be more favorable than some current rhetoric suggests. However, a small minority of adult intersex patients are dissatisfied with their gender and a more substantial number are dissatisfied with genital status and sexual functioning, and they support policy changes, as implied by the respective items of our survey. REFERENCES 1. Evaluation of the newborn with developmental anomalies of the external genitalia. American Academy of Pediatrics, Committee on Genetics. Pediatrics, 106: 138, Statement of the British Association of Paediatric Surgeons Working Party on the Surgical Management of Children Born With Ambiguous Genitalia, July Available at baps.org.uk/documents/intersex%20statement.htm. Accessed November 23, Joint LWPES/ESPE CAH Working Group: Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab, 87: 4048, Diamond, M. and Sigmundson, H. K.: Management of intersexuality. Guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adolesc Med, 151: 1046, Chase, C.: Hermaphrodites with attitude. Mapping the emergence of intersex political activism. GLQ, 4: 189, Fausto-Sterling, A.: The five sexes: why male and female are not enough. Sciences, 33(2): 20, Kessler, S. J.: Lessons from the intersexed. New Brunswick, New Jersey: Rutgers University Press, Butler, J.: X marks the spot for intersex Alex. The West Australian, Jan. 11, Available at /news/perth/tw-news-perth-home-sto84205.html 9. Intersex Society of North America: Recommendations for Treatment: Intersex Infants and Children. San Francisco: Intersex Society of North America, Available at Accessed January 21, Intersex Society of North America: Hermaphrodites with Attitude, Fall 1999, p. 1, col. 3. Available at Accessed January 21, Schober, J. M.: Early feminizing genitoplasty or watchful waiting. J Pediatr Adolesc Gynecol, 11: 154, Alizai, N. K., Thomas, D. F. M., Lilford, R. J., Batchelor, A. G. G. and Johnson, N.: Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty. J Urol, 161: 1588, Creighton, S. M., Minto, C. L. and Steel, S. J.: Objective cosmetic and anatomical outcomes at adolescence of feminising surgery for ambiguous genitalia done in childhood. Lancet, 358: 124, Daaboul, J. and Frader, J.: Ethics and the management of the patient with intersex: a middle way. J Pediatr Endocrinol Metab, 14: 1575, Meyer-Bahlburg, H. F. L.: Gender assignment and reassignment in intersexuality: controversies, data, and guidelines for research. In: Pediatric Gender Assignment: A Critical Reappraisal. Edited by S. A. Zderic, D. A. Canning, M. C. Carr and H. McC. Snyder, III. New York: Kluwer Academic/Plenum Publishers, vol. 511, pp , Wisniewski, A. B., Migeon, C. J., Meyer-Bahlburg, H. F., Gearhart, J. P., Berkovitz, G. D., Brown, T. R. et al: Complete androgen insensitivity syndrome: long-term medical, surgical, and psycho-

5 SURVEY OF 46,XY PSEUDOHERMAPHRODITES 1619 sexual outcome. J Clin Endocrinol Metab, 85: 2664, Wisniewski, A. B., Migeon, C. J., Gearhart, J. P., Rock, J. A., Berkovitz, G. D., Plotnick, L. P. et al: Congenital micropenis: long-term medical, surgical and psychosexual follow-up of individuals raised male or female. Horm Res, 56: 3, Migeon, C. J., Wisniewski, A. B., Gearhart, J. P., Meyer-Bahlburg, H. F., Rock, J. A., Brown, T. R. et al: Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics, 110: 31, Available at 3/e31. Accessed January 21, Migeon, C. J., Wisniewski, A. B., Brown, T. R., Rock, J. A., Meyer-Bahlburg, H. F., Money, J. et al: 46,XY intersex individuals: phenotypic and etiologic classification, knowledge of condition, and satisfaction with knowledge in adulthood. Pediatrics, 110: e32, Available at: org/cgi/content/full/110/3/e32. Accessed January 21, Money, J., Devore, H. and Norman, B. F.: Gender identity and gender transposition: longitudinal outcome study of 32 male hermaphrodites assigned as girls. J Sex Marital Ther, 12: 165, 1986 EDITORIAL COMMENTS For much of the last decade those called upon to advise on the management of an infant born with ambiguous genitalia have been under assault from patient advocates who have vociferously maintained that feminizing genitoplasty is a mutilating procedure. Furthermore, the widely publicized John-Joan case, in which the gender reassignment of an unfortunate infant who lost his penis in a circumcision accident ultimately proved to have been inappropriate, has added fuel to the fire. Consequently, we are now in a state of virtual therapeutic paralysis, which does no service to the many parents who ask that something be done to normalize the appearance of their infant s genitalia. Hitherto, reassurances have been difficult to offer because of the paucity of followup studies addressing long-term psychological and sexual outcomes. These authors report the opinions among former patients regarding a number of important questions raised by opponents of early surgical intervention. They include the age at which surgery should be carried out, the level of satisfaction with assigned gender, and the postoperative appearance and function of the genitalia. They were also questioned regarding the place for a third sex category for intersex individuals. The authors found that, although there were individual exceptions, the traditional criteria by which they had been managed appear to be weathering the storm. The authors draw attention to several limitations to their study, namely that the patients were relatively few in number, were all seen at 1 clinic and there was a significant rate of nonparticipation, raising the question as to how representative their findings are. Nonetheless, their study deserves close reading by all who have opinions on the matter of gender assignment and genital surgery for the intersex population. It is to be hoped that it will also encourage the implementation of long overdue multicenter followup studies, particularly important with regard to the rarer intersex conditions, so that the recommendations that we make for our patients are based on sound, scientific evidence rather than on rhetoric. Ian Aaronson Medical University of South Carolina Charleston, South Carolina In the current era of evidence based medicine clinicians have been placed in a difficult situation with regard to the treatment of infants with intersex conditions. Policies that most clinicians have believed in and used unquestioningly have been challenged by a number of individual patients who have demonstrated flaws in those policies. Unfortunately there have been precious little data to support 1 treatment modality over another. The authors help us greatly in this report. They performed a retrospective analysis of adult patients who had been treated during childhood for intersex conditions. They demonstrate that overall these patients are satisfied with their gender assignments and with the surgical procedures that they have undergone. Furthermore, as a general rule these patients agree with the traditional philosophy that early corrective gender assignment and genital surgery is better than waiting until patients are old enough to make a decision on these issues themselves. Although these data are reassuring to those making decisions primarily based on traditional practices, it is important to note that there was a small but significant number of patients who were unhappy with the outcome and who believed that the treatment philosophy used to treat them was suboptimal. In many scientific conditions we learn more from the exceptions than from those who follow the general rule. I believe that this situation is no different. Indeed, I believe that it is critical that we determine what was different about the diagnosis, therapy, counseling, demographics or family situation (and many other unknown factors) in patients who were unhappy with their outcomes. Those findings will not only help immeasurably in preventing poor outcomes in future patients, but also will inform us greatly about the biology of intersex. The authors also acknowledge the weaknesses of their study. For instance, at first glance it appears that the patients with micropenis and those with ambiguous genitalia were almost equally satisfied whether they were raised as male or female. However, this study is retrospective and, hence, the patients were not assigned a gender randomly. Rather, there must have been many unidentified cues that resulted in 1 assignment vs another. Also, concerning is the fact that a quarter of the patients could not be contacted and another quarter refused to participate when contacted. It is unclear how data from these patients might influence the results. Hence, it is my belief that an important message of this study is the need for large prospective studies of these patients. To put evidence based medicine into practice in these patients we need not only excellent retrospective studies like the one presented, but also prospective studies of this population. In the meantime all clinicians should be grateful for the data in this study that will help guide our current treatment of these patients. Barry A. Kogan Division of Urology Albany Medical Center Albany, New York