Complete Androgen Insensitivity Syndrome.
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.
Hashmi
Asra
A
Dow University of Health Sciences, Karachi.
Hanif
Farha
F
Hanif
Shumaila Muhammad
SM
Abdullah
Farhan Essa
FE
Shamim
Muhammad Shahid
MS