Complete Androgen Insensitivity Syndrome: Role of Imaging for Diagnosis.

Abstract

Androgen insensitivity syndrome (AIS) is a rare disorder of sexual differentiation, characterized by impaired responsiveness to androgens, resulting in the development of typically female external genitalia, despite having a male chromosomal pattern (XY). In this case report, we describe the radiological findings of two young siblings diagnosed with AIS who presented with primary amenorrhea. The diagnosis was confirmed on laparotomy and gonads were surgically removed in both the siblings.