An Intriguingly Rare Presentation of Androgen Insensitivity Syndrome in a Female Adult in South- South Nigeria Presenting as a Diagnostic Dilemma- A Case Report and Literature Review

Abstract

Androgen insensitivity syndrome (AIS) previously known as testicular feminization syndrome is a rare inherited form of disorders of sexual development which can be complete or partial. The complete type occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic and axillary hair. These patients have male karyotype (XY) and negative sex chromatin. The gonad (undescended testis) may be intra-abdominal, inguinal, or labial and may be bilateral. We present patient SGJ, a 30-year-old unmarried female National Youth Corp Member who presented with a one-day history of a severely painful left groin mass. She had normal breast development, scanty growth of pubic and axillary hair, normal vulva and vagina but no cervix from a speculum examination. She had been amenorrhoeic since birth but sexually active. Groin examination revealed a tender soft mass measuring 3 by 2cm at the left inguinal region with an initial diagnosis of obstructed hernia. The uterus and ovaries were absent on ultrasonography. Due to the severity of the mass in the groin, she was counselled for emergency surgery under spinal anaesthesia and written consent obtained following which an emergency groin surgical exploration was done. A normal testicle was resected to avoid gonadal tumours in later life and confirmed histopathologically two weeks later as a cryptorchid testes. Hormonal assay result which also came two weeks later revealed elevated testosterone, normal FSH and LH levels. Chromosomal study (genetic karyotype) could not be done due to patient’s decision despite counselling. The aim of this report is to review the current understanding of the diagnosis and treatment of complete androgen insensitivity syndrome.