Clinical Case Report Series

Archives of Sexual Behavior

, Volume 40, Issue 3, pp 635-638

First online:

Male Gender Identity in Complete Androgen Insensitivity Syndrome

  • Guy T’SjoenAffiliated withDepartment of Endocrinology and Center for Sexology and Genderproblems, Ghent University Hospital Email author 
  • , Griet De CuypereAffiliated withDepartment of Endocrinology and Center for Sexology and Genderproblems, Ghent University Hospital
  • , Stan MonstreyAffiliated withDepartment of Plastic Surgery, Ghent University Hospital
  • , Piet HoebekeAffiliated withDepartment of Urology, Ghent University Hospital
  • , F. Kenneth FreedmanAffiliated with
  • , Mahesh AppariAffiliated withDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Schleswig–Holstein Campus Kiel, Christian Albrechts University of Kiel
  • , Paul-Martin HolterhusAffiliated withDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Schleswig–Holstein Campus Kiel, Christian Albrechts University of Kiel
  • , John Van BorselAffiliated withDepartment of Otorhinolaryngology, Ghent University Hospital
  • , Martine CoolsAffiliated withDepartment of Pediatric Endocrinology, Ghent University Hospital

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

Abstract

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.

Keywords

Complete androgen insensitivity syndrome Gender identity disorder Transsexualism Disorder of sex development