Hamartomatous nodule, sertoli cell adenoma in complete androgen insensitivity syndrome with Wolffian/Müllerian duct remnants: An unusual case report

Abstract

Complete Androgen insensitivity syndrome is a disorder of hormone resistance characterized by a female phenotype with an XY karyotype and testes producing age-appropriate normal or higher concentrations of androgens. We present a case of 26 year old, unmarried phenotypically female, with left inguinal swelling and amenorrhea. MRI finding revealed bilateral inguinal masses, uterus cervix was not visualized and hypoplatic vagina was noted. Karyotyping revealed her genotype as 46 XY. Hormonal investigation showed testosterone, estradiol and LH were increased and FSH was within normal limits. Patient underwent laparoscopic bilateral gonadectomy with left open hernia repair. Histopathology examination revealed hamartomatous nodule, sertoli cell adenoma, leydig cell hyperplasia, which are more pronounced as age advances as result of absent activity of androgen. Fallopian tube, underdeveloped vas deference, Wolffian/Müllerian cysts lined by cuboidal epithelium was also noted which may be reminiscent of Wolffian/ Müllerian structure. Immunostaining for PLAP and CD 117 were negative. The clinical, MRI, laboratory and histopathology findings confirmed diagnosis of complete androgen insensitivity syndrome.