title: Complete Androgen Insensitivity Syndrome.
abstract: The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genitalia and the presence of abdominal mass, possibly testes. Syndrome has been linked to mutations in AR, the gene for the human Androgen Receptor, located at Xq11-12 leading to the insensitivity of the receptor to testosterone. Gonadectomy was performed and life long Hormone replacement therapy was advised.
authors.affiliation: Dow University of Health Sciences, Karachi.
authors.forename: Asra
authors.initials: A
authors.lastname: Hashmi
authors.forename: Farha
authors.initials: F
authors.lastname: Hanif
authors.forename: Shumaila Muhammad
authors.initials: SM
authors.lastname: Hanif
authors.forename: Farhan Essa
authors.initials: FE
authors.lastname: Abdullah
authors.forename: Muhammad Shahid
authors.initials: MS
authors.lastname: Shamim