Past Issue

Volume 7, Number 4, Jan-Mar 2014, Pages: 353-356

Complete Androgen Insensitivity Syndrome in Three Sisters


Levent Verim, M.D., *,
* Corresponding Address: Department of Urology Haydarpasa Numune Training Hospital Istanbul Turkey Email: leventverim@hotmail.com

Abstract

Disorders of sexual development (DSD) are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome (CAIS), also known as testicular feminization (TF) is a rare DSD disease. The majority of CAIS patients apply to hospital with the complaint of primary amenorrhea or infertility. Given that CAIS patients are all phenotypically female while having 46, XY karyotypes, CAIS diagnosis should be disclosed in an age-appropriate manner preferably by a mental health professional. Cases are reported here for three 46XY siblings consistent with CAIS.