Exome sequencing for the diagnosis of 46,XY disorders of sex development.

ABSTRACT:

Context

Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or genital) sex of an individual. Such conditions can be stressful for patients and their families and have historically been difficult to diagnose, especially at the genetic level. In particular, for cases of 46,XY gonadal dysgenesis, once variants in SRY and NR5A1 have been ruled out, there are few other single gene tests available.

Objective

We used exome sequencing followed by analysis with a list of all known human DSD-associated genes to investigate the underlying genetic etiology of 46,XY DSD patients who had not previously received a genetic diagnosis.

Design

Samples were either submitted to the research labora

SUBMITTER: Baxter RM 

PROVIDER: S-EPMC4318895 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature