Androgen Insensitivy Syndrome: Case Report

Androgen Insensitivy Syndrome

Abstract

Androgen insensitivity syndrome (AIS), also known as testicular feminization, caused by different mutations in the androgen receptor gene. AIS is an X-linked recessive disorder. AIS classified as complete, partial, or mild based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Mlerian structures, presence of Wolffian structures to various degree, and normal to high testosterone and gonadotropin levels. The syndrome is illustrated by a 17year-old phenotypic female who presented with amenorrhoea, infantile external genitalia, clitoromegaly, an absent uterus and ovaries, and bilateral testes at the level of the internal inguinal ring. Management includes counseling, gonadectomy to prevent primary malignancy in undescended gonad, and hormone replacement.