title: Male gender identity in complete androgen insensitivity syndrome.
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.
authors.affiliation: Department of Endocrinology, Center for Sexology and Genderproblems, Ghent University Hospital, Belgium. guy.tsjoen@ugent.be
authors.forename: Guy
authors.initials: G
authors.lastname: T'Sjoen
authors.forename: Griet
authors.initials: G
authors.lastname: De Cuypere
authors.forename: Stan
authors.initials: S
authors.lastname: Monstrey
authors.forename: Piet
authors.initials: P
authors.lastname: Hoebeke
authors.forename: F Kenneth
authors.initials: FK
authors.lastname: Freedman
authors.forename: Mahesh
authors.initials: M
authors.lastname: Appari
authors.forename: Paul-Martin
authors.initials: PM
authors.lastname: Holterhus
authors.forename: John
authors.initials: J
authors.lastname: Van Borsel
authors.forename: Martine
authors.initials: M
authors.lastname: Cools
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics / Q000523:psychology*; D005783:Gender Identity; D006801:Humans; D008297:Male