Gender Outcome in 46,XY Complete Androgen Insensitivity Syndrome: Comment on T’Sjoen et al. (2010)

The case report by T’Sjoen et al. (2010) constitutes the third published case of an originally female-assigned individual with 46,XY complete androgen insensitivity syndrome (CAIS) who appeared to have developed a male gender identity. Of the three individuals, this third one underwent the most sophisticated genetic work-up, and the social history makes a contribution of social coercion to the identity development least likely. Therefore, this report raises challenging diagnostic, phenomenologic, and etiologic questions. T’Sjoen et al. ‘‘believe this patient qualifies as female-tomale transsexual.’’ Their diagnosis was predated by the psychotherapist’s diagnosis of ‘‘childhood-onset gender identity disorder’’ made in the course of 5 years of psychotherapy that had started at age 23 years, i.e., 2 years before the initiation of androgen treatment and 4 years before mastectomy. The psychiatric nomenclature used in this case from Belgium was presumably that of the International Classification of Diseases, 10th revision (ICD-10; World Health Organization, 1992). In this context, the use of the diagnosis of F64.0 Transsexualism for a case of CAIS is puzzling, because the respective guidelines text clearly states that the ‘‘transsexual identity...must not be...associated with any intersex, genetic, or sex chromosome abnormality’’ (World Health Organization, 1992, p. 215; website p. 168). Perhaps the choice of diagnosis was influenced by the fact that this exclusion criterium has not been listed specifically for F64.2 Gender identity disorder of [prepubertal] childhood (World Health Organization, 1992, pp. 215–217; website pp. 168–170). In the Diagnostic and Statistical Manual ofMentalDisorders (DSM-IV-TR) of the American Psychiatric Association (2000), a ‘‘concurrent...physical intersex condition’’ is an exclusion criterium for Gender Identity Disorder regardless of pubertal stage. I have presented detailed arguments why the DSM-IV-TR diagnostic category of Gender Identity Disorder, as defined for persons without physical intersexuality (recently re-named ‘‘disorders of sex development’’ [DSD; Hughes et al., 2006]), should not be applied to persons with gender-identity problems in the context of a DSD (MeyerBahlburg, 1994, 2009). As T’Sjoen et al. did not discuss this issue in their report, it is unclear whether the transsexualism diagnosis was just an oversight on their part, or whether they assumed that, in this particular case, the patient-initiated gender change was distinctly different from that found in other cases of intersexuality and really more comparable to that of non-DSD transsexualism. The case history, as presented retrospectively, is much in line with what one sees clinically in many cases of DSD with patient-initiated gender change. Although assigned female at birth and undiagnosed until age 17 years, this child showed substantial cross-gender behavior since the age of 3 years, with verbal expressions of the wish to be of the other gender. However, this patient must have agreed to a short course of estrogen treatment at age 18, which was soon stopped again because of the patient’s aversive reaction to body feminization. Yet, subsequently, it took another 5 years and a revisit of her medical records for the patient to realize the potential implications of her 46,XY karyotype, which ‘‘supported the desire to make her body congruent with a long-standing male gender identity,’’ but even then there was substantial ‘‘hesitation’’ about her presentation, and another 2 years of psychotherapy before beginning androgen treatment, etc. Transient periods of gender uncertainty are experienced by many patients with DSD (Meyer-Bahlburg et al., 2004b), and the slow gradual procession to gender change in later adolescence and adulthood also appears more common among H. F. L. Meyer-Bahlburg (&) New York State Psychiatric Institute and Department of Psychiatry, Columbia University, 1051 Riverside Drive, Unit 15, New York, NY 10032, USA e-mail: meyerb@childpsych.columbia.edu