Androgen insensitivity syndrome – A case report.

ABSTRACT

Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinisation of the external genitalia in chromosomally male individuals. It affects 2 to 5 per 100,000 people who are genetically male. A case of Androgen insensitivity syndrome is reported in a 20 year-old married woman, who presented with a history of primary amenorrhea. Her karyotype report revealed a male karyotype (46XY). Transvaginal sonography revealed absence of cervix, uterus and ovaries. Ultrasound of abdomen pelvis reported – bilateral inguinal testes. Bilateral inguinal gonadectomy was done. Histopathology of the gonads revealed seminiferous tubules lined by germ cells exhibiting various stages of normal spermatogenesis. She was treated with hormonal replacement therapy.