Review of Intersex Disorders

Introduction

Intersex disorders are rare, but interesting diseases with varied presentation. The spectrum is very wide and possesses both diagnostic and therapeutic challenge to the physician. It is very important for the physician to understand the nature of the condition clearly as these patients need gentle handling and adequate and careful counseling. We present this series of intersex disorders managed in a single unit of AIIMS from 1998 to 2009.

Methods

This is a retrospective analysis of all types of intersex disorders. Total 23 cases were analyzed.

Results

Androgen insensitivity syndrome (AIS) was seen in 6: complete AIS in 5 and partial AIS in 1. Gonadal dysgenesis was seen in 9 cases; of these Turner mosaic in 2, dysgenetic male in 1, mixed gonadal dysgenesis in 5, and familial gonadal dysgenesis in 1. Swyer syndrome was seen in 5 cases. Congenital adrenal hyperplasia (CAH) was seen in 3.

Bilateral gonadectomy was done in 20 cases. Associated procedures included bilateral lymphadenectomy in one case. One case of partial AIS underwent bilateral inguinal gonadectomy with herniorrhaphy and clitoroplasty. Two cases of CAH underwent reduction clitoroplasty and vaginoplasty. One case of CAH underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy as (s)he was extremely virilised and opted for male sex.

Occult gonadoblastoma was detected in 5 cases. One case clinically suspected of gonadoblastoma turned out to be a benign epididymal cyst. Gonadoblastoma was more common in Swyer syndrome (3 of 5 cases); one case of mixed gonadal dysgenesis and one case of familial gonadal dysgenesis also had gonadoblastoma. The other tumor noted was dysgerminoma in one case of Swyer syndrome.