The evolving role of whole-exome sequencing in the management of disorders of sex development.

ABSTRACT:

Objective

Disorders of sex development (DSD) are defined as congenital conditions in which the development of chromosomal, gonadal and anatomical sex is atypical. Despite wide laboratory and imaging investigations, the etiology of DSD is unknown in over 50% of patients.

Methods

We evaluated the etiology of DSD by whole-exome sequencing (WES) at a mean age of 10 years in nine patients for whom extensive evaluation, including hormonal, imaging and candidate gene approaches, had not identified an etiology.

Results

The eight 46,XY patients presented with micropenis, cryptorchidism and hypospadias at birth and the 46,XX patient presented with labia majora fusion. In seven patients (78%), pathogenic variants were identified for RXFP2, HSD17B3, WT1, BMP4, POR, CHD7 and SIN3A

SUBMITTER: Tenenbaum-Rakover Y 

PROVIDER: S-EPMC8240709 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature