Male Gender Identity in Complete Androgen Insensitivity Syndrome

Abstract

Purpose In XY individuals with complete androgen insensitivity syndrome (CAIS), the external genitalia are unremarkable (normal female) at birth. That is why CAIS patients are invariably assigned and reared as girls. In spite of the presence of a Y chromosome, and concordant with the absent androgenization of the brain, CAIS girls and women have a female-typical core gender identity, and female-typical gender role behavior in adulthood, usually choose a male partner and do not appear to suffer from gender identity disorder. There is no documented case of gender change in individuals with CAIS. Material and Methods In 1995, our patient was diagnosed with CAIS at age 17 following investigations for primary amenorrhoea. The diagnosis was based on an unambiguously female phenotype, a 46,XY karyotype and an androgen receptor gene mutation. Bilateral gonadectomy and hernia repair was performed in 1996. A short time of oestrogen treatment induced a negative emotional reaction and treatment was stopped.Since the age of three, childhood-onset cross gender behavior had been noticed. After a period of psychotherapy, started in 2001, persisting male gender identity was confirmed. Hormonal therapy with Testosterone enanthate 200 mg intramuscularly every 2 weeks was started in 2003, however without inducing any of the desired secondary male characteristics. A subcutaneous mastectomy was performed in 2005 and this was a relief for the patient. Results We saw this individual at age 28 with clear male gender role and presentation, mastectomyscars, and female external genitalia without clitoral hypertrophy. The patient received in 2008 phalloplasty by left forearm free flap to the perineal region and scrotoplasty. Even without virilization, testosterone treatment was continued and bone density remained normal. Conclusions To our knowledge, this is the first case of CAIS who chose gender reassigment to male.