Archives of Sexual Behavior

, Volume 40, Issue 3, pp 635–638

Male Gender Identity in Complete Androgen Insensitivity Syndrome

  • Guy T’Sjoen
  • Griet De Cuypere
  • Stan Monstrey
  • Piet Hoebeke
  • F. Kenneth Freedman
  • Mahesh Appari
  • Paul-Martin Holterhus
  • John Van Borsel
  • Martine Cools
Clinical Case Report Series

DOI: 10.1007/s10508-010-9624-1

Cite this article as:
T’Sjoen, G., De Cuypere, G., Monstrey, S. et al. Arch Sex Behav (2011) 40: 635. doi:10.1007/s10508-010-9624-1

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 syndromeGender identity disorderTranssexualismDisorder of sex development

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Guy T’Sjoen
    • 1
  • Griet De Cuypere
    • 1
  • Stan Monstrey
    • 2
  • Piet Hoebeke
    • 3
  • F. Kenneth Freedman
    • 4
  • Mahesh Appari
    • 5
  • Paul-Martin Holterhus
    • 5
  • John Van Borsel
    • 6
  • Martine Cools
    • 7
  1. 1.Department of Endocrinology and Center for Sexology and GenderproblemsGhent University HospitalGhentBelgium
  2. 2.Department of Plastic SurgeryGhent University HospitalGhentBelgium
  3. 3.Department of UrologyGhent University HospitalGhentBelgium
  4. 4.AnchorageUSA
  5. 5.Division of Pediatric Endocrinology and Diabetes, Department of PediatricsUniversity Hospital Schleswig–Holstein Campus Kiel, Christian Albrechts University of KielKielGermany
  6. 6.Department of OtorhinolaryngologyGhent University HospitalGhentBelgium
  7. 7.Department of Pediatric EndocrinologyGhent University HospitalGhentBelgium