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

Prashant Vijay Kumavat,Chetan S Chaudhari,Sangita Margam,Ganesh R Kshirsagar,Nitin M Gadgil,Anita Padmanabhan

doi:10.21276/apalm.1132

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. 26 year old unmarried phenotypically female presented with left inguinal swelling and never consulted for amenorrhea. MRI finding revealed bilateral inguinal masses, uterus cervix not visualized and hypoplatic vagina was noted. She had advised karyotyping which was 46 XY. Hormonal investigation showed testosterone, estradiol and LH was increase 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/ Mullerian cysts lined by cuboidal epithelium was also noted which may be reminiscent of Wolffian/ Mullerian structure . IHC revealed PLAP and CD 117 which were negative. The clinical, MRI, laboratory and histopathology findings confirmed diagnosis of complete androgen insensitivity syndrome. DOI: 10.21276/APALM.1132 Key words: Complete androgen insensitivity syndrome, Gonads, Hamartoma, Mullerian, Wolffian.

Highlights

Complete androgen insensitivity syndrome (CAIS) is a female phenotype with a male karyotype (46, XY) which results from inactivating mutation in the androgen receptor (AR) gene.[1]
[3] We report a case of complete androgen insensitivity syndrome in twenty six year old unmarried female but found to have a 46, XY genotype, with hamartomatous nodule, sertoli cell adenoma and residual Müllerian/Wolffian tissue
Androgen insensitivity syndrome (AIS) is an X-linked, male pseudo hermaphroditism known as testicular feminization syndrome, in which clinically phenotypically patient is female but shows 46 XY genotype

Summary

Introduction

Complete androgen insensitivity syndrome (CAIS) is a female phenotype with a male karyotype (46, XY) which results from inactivating mutation in the androgen receptor (AR) gene.[1]. Male external genitalia differentiation and Wolffian duct development do not occur correctly. Residual Müllerian structures exist approximately in one third of patients.[2] Development of the gonads is normal, and serum androgen level is comparable with that of a normal male. Most of the patients with complete androgen insensitivity typically presents either at puberty with primary amenorrhea or before puberty with masses in the inguinal canal that are subsequently identified as testes. [3] We report a case of complete androgen insensitivity syndrome in twenty six year old unmarried female but found to have a 46, XY genotype, with hamartomatous nodule, sertoli cell adenoma and residual Müllerian/Wolffian tissue After development of secondary sexual features, testes either in the inguinal canals or in the pelvis should be removed, because gonadal tumours are known to develop in 5 % of cases. [3] We report a case of complete androgen insensitivity syndrome in twenty six year old unmarried female but found to have a 46, XY genotype, with hamartomatous nodule, sertoli cell adenoma and residual Müllerian/Wolffian tissue

Case report

Findings

Discussion