Complete Androgen Insensitivity Syndrome- A Case Report

The incidence of complete androgen insensitivity syndrome [CAIS] is about 2 to 5 per lakh phenotypic females. People with CAIS are normal appearing females, despite the presence of testis and a 46XY chromosome constitution. We came across a case in which a 25 years old girl presented with primary amenorrhoea and emotional disturbances. Subsequent investigations were done revealing absence of female internal genitalia and presence of inguinal mass possibly testis. Syndrome was linked to mutations in AR, the gene for the human Androgen Receptor, located at Xq 11–12 leading to the insensitivity of the receptors to testosterone. Gonadectomy was performed and lifelong hormone therapy was advised.