Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

2014231 citationsJournal Articlebronze Open Access

Authors

Ruth M. Baxter

Valerie A. Arboleda · University of California, Los Angeles

Hane Lee · University of California, Los Angeles

Hayk Barseghyan

Margaret P Adam · University of Washington

Patricia Y. Fechner · Seattle Children's Hospital

Renee Bargman · Nassau University Medical Center

Catherine E. Keegan

Abstract

Early identification of the genetic cause of a DSD will in many cases streamline and direct the clinical management of the patient, with more focused endocrine and imaging studies and better-informed surgical decisions. Exome sequencing proved an efficient method toward such a goal in 46,XY DSD patients.

Topics & Keywords

Sexual Differentiation and Disorders Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Urological Disorders and Treatments

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: The Journal of Clinical Endocrinology & Metabolism

Volume 100, Issue 2, pp. E333-E344

DOI: 10.1210/jc.2014-2605

Field-Weighted Citation Impact: 7.53