Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome.

Roberta Fonseca De Souza,Janaina Pereira Da Silva,Antônio Chambô Filho,Rodrigo Neves Ferreira,Bruno Vieira Balla

doi:10.1155/2017/8357235

Abstract

Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. The tumors were surgically removed at the Santa Casa de Misericórdia Hospital in Vitória, Espírito Santo, Brazil. Pathology revealed bilateral testicles with Sertoli cell tumors. According to the international literature, prophylactic gonadectomy following puberty is recommended due to the progressive risk of neoplastic transformation in the residual gonads.

Highlights

Formerly known as testicular feminization, was first described in detail in 1953 in a classic report of 82 cases published by Morris [1]
Its prevalence ranges from 1 in 20,400 to 1 in 99,100 male infants and the disorder is associated with X-linked recessive inheritance [1, 3]
Diagnosis is based on findings of a female phenotype, absence of the upper genital tract, and confirmation of the 46, XY karyotype

Summary

Introduction

Formerly known as testicular feminization, was first described in detail in 1953 in a classic report of 82 cases published by Morris [1]. Since this disease is rare, there are no statistics on its actual prevalence in the population; it is estimated to occur in around 1 in 20,400 to 1 in 99,100 male infants [2]. The present report describes the histopathology findings of bilateral Sertoli cell tumors in a patient with androgen insensitivity syndrome receiving care at the Department of Gynecology and Obstetrics, Santa Casa de Misericordia, Vitoria, Espırito Santo, Brazil. Written informed consent for the publication of this report and corresponding images was obtained from the patient

Case Report

Findings

Discussion