Male Gender Identity in Complete Androgen Insensitivity Syndrome
- 1.4k Downloads
Women and girls with complete androgen insensitivity syndrome (CAIS) invariably have a female typical core gender identity. In this case report, we describe the first case of male gender identity in a CAIS individual raised female leading to complete sex reassignment involving both androgen treatment and phalloplasty. CAIS was diagnosed at age 17, based on an unambiguously female phenotype, a 46,XY karyotype, and a 2660delT androgen receptor (AR) gene mutation, leading to a premature stop in codon 807. Bilateral gonadectomy was performed but a short period of estrogen treatment induced a negative emotional reaction and treatment was stopped. Since the age of 3, childhood-onset cross gender behavior had been noticed. After a period of psychotherapy, persisting male gender identity was confirmed. There was no psychiatric co-morbidity and there was an excellent real life experience. Testosterone substitution was started, however without inducing any of the desired secondary male characteristics. A subcutaneous mastectomy was performed and the patient received phalloplasty by left forearm free flap and scrotoplasty. Testosterone treatment was continued, without inducing virilization, and bone density remained normal. The patient qualifies as female-to-male transsexual and was treated according to the Standards of Care by the World Professional Association for Transgender Health with good outcome. However, we do not believe that female sex of rearing as a standard procedure should be questioned in CAIS. Our case challenges the role of a functional AR pathway in the development of male gender identity.
KeywordsComplete androgen insensitivity syndrome Gender identity disorder Transsexualism Disorder of sex development
Martine Cools is supported by the Flanders Research Foundation (FWO).
- Avila, D. M., Wilson, C. M., Nandi, N., Griffin, J. E., & McPhaul, M. J. (2002). Immunoreactive AR and genetic alterations in subjects with androgen resistance and undetectable AR levels in genital skin fibroblast ligand-binding assays. Journal of Clinical Endocrinology and Metabolism, 87, 182–188.PubMedCrossRefGoogle Scholar
- Baldazzi, L., Baroncini, C., Pirazzoli, P., Balsamo, A., Capelli, M., Marchetti, G., et al. (1994). Two mutations causing complete androgen insensitivity: A frame-shift in the steroid binding domain and a Cys → Phe substitution in the second zinc finger of the androgen receptor. Human Molecular Genetics, 3, 1169–1170.PubMedCrossRefGoogle Scholar
- Hannema, S. E., Scott, I. S., Hodapp, J., Martin, H., Coleman, N., Schwabe, J. W., et al. (2004). Residual activity of mutant androgen receptors explains Wolffian duct development in the complete androgen insensitivity syndrome. Journal of Endocrinology and Metabolism, 89, 5815–5822.CrossRefGoogle Scholar
- Holterhus, P. M., Brüggenwirth, H. T., Hiort, O., Kleinkauf-Houcken, A., Kruse, K., Sinnecker, G. H., et al. (1997). Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. Journal of Clinical Endocrinology and Metabolism, 82, 3584–3589.PubMedCrossRefGoogle Scholar
- Money, J. (1991). Biographies of gender and hermaphroditism in paired comparisons. Amsterdam: Elsevier.Google Scholar
- Mordaunt, M. (2006). Pitch and intonation. In R. K. Adler, S. Hirsch, & M. Mordaunt (Eds.), Voice and communication therapy for the transgender/transsexual client: A comprehensive clinical guide (pp. 169–207). San Diego, CA: Plural Publishing.Google Scholar
- Rodien, P., Mebarki, F., Mowszowicz, I., Chaussain, J. L., Young, J., Morel, Y., et al. (1996). Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. Journal of Clinical Endocrinology and Metabolism, 81, 2994–2998.PubMedCrossRefGoogle Scholar
- Soriano Guillen, L., Muñoz Calvo, M. T., Martinez Pérez, J., Pozo-Roman, J., Marin-Sobrino, M. A., Gonzalez Medeiro, I., et al. (2002). Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome. Anales españoles de pediatria, 56, 347–352.PubMedGoogle Scholar
- Wisniewski, A. B., Migeon, C. J., Meyer-Bahlburg, H. F. L., Gearhart, J. P., Berkovitz, G. D., Brown, T. R., et al. (2000). Complete androgen insensitivity syndrome: Long-term medical, surgical, and psychosexual outcome. Journal of Clinical Endocrinology and Metabolism, 85, 2664–2669.PubMedCrossRefGoogle Scholar