Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants

Abstract

Presentation of complete androgen insensitivity in two members of the same family with differing residual Müllerian tissue. Case report. Rural hospital setting. Two siblings with 46,XY karyotype and female phenotype presented at different points in time with primary amenorrhea. Laparoscopy of sister 1 revealed bilateral elongated gonads and remnants of uterine tissue. Laparoscopy of sister 2 demonstrated both gonads, but no uterus was identified. Sister 1: bilateral gonadectomy and hysterectomy. Sister 2: bilateral gonadectomy. Gonadectomy for cancer prophylaxis, counseling in affected/unaffected family members. Sister 1: pathology revealed portions of immature testicles and fragments of smooth muscle. Sister 2: pathology reported two testicular and epididymal-like structures with benign Sertoli cell adenomas entirely in testicular parenchyma. This case demonstrates the presentation and laparoscopic photos of complete androgen insensitivity syndrome discovered in two siblings. Both girls are genotypically male, but differ in the presence of vestigial Müllerian tissue. This case demonstrates that siblings with androgen resistance may express varying amounts of Müllerian tissue.