XY FEMALE WITH PARTIAL ANDROGEN INSENSITIVITY SYNDROME

Abstract

Androgen Insensitivity Syndrome, previously called as Testicular feminisation syndrome, is an X-linked recessive rare disorder. It was initially described by Morris in 1953. It can be either complete (CAIS), mild (MAIS) or partial androgen insensitivity (PAIS) depending on the receptors response to testosterone. Partial androgen insensitivity  syndrome describes a variety of disorders that result in   androgen action less severe than those associated with  complete androgen sensitivity. The individual is  phenotypically female and genotypically male (XY) a male pseudohermaphrodite. The condition is suspected when the individual is evaluated for primary amenorrhoea, infertility, or when unilateral or bilateral inguinal hernia is diagnosed in females or lack of virilisation in males at puberty. Treatment is directed towards gender assignment, psychological support, gonadectomy, vaginoplasty and hormonal therapy. Here we present a case of a 25year old female with partial androgen sensitivity syndrome with primary amenorrhoea with normal secondary sexual characters with clitoromegaly and testis in labia majora. She was managed surgically by Reduction clitoroplasty with bilateral gonadectomy. Post operatively patient was started on estrogen replacement therapy with Tab.Premarin 0.625mg daily.