How geneticists think about Differences/Disorders of Sexual Development (DSD): A conversation

Heather M Byers 1, Magdalena Fossum 2, Hsi-Yang Wu 3

Affiliations

PMID: 32893165
DOI: 10.1016/j.jpurol.2020.08.015

Abstract

A multidisciplinary DSD clinic offers the opportunity for different specialties to learn from each other, as each provides their own perspective and expertise to the management of these complex patients, leading to collaborative care. For the patient, a multi-disciplinary clinic can improve access to care and decrease stress, as patients see all of the specialists on one day. For urologists seeing patients with DSD within a multi-disciplinary DSD clinic as well as independently, understanding what other specialists provide can help facilitate care and referral. Medical genetics is part of a multi-disciplinary DSD clinic. Given the recent advances in genetic diagnostics, many of the offered tests may be less familiar to the pediatric urologist. Therefore, this conversation reviews the clinical presentations and genetic testing options including chromosomal microarray, genetic testing panel, whole exome sequencing, and whole genome sequencing and how these can be helpful in the diagnosis and management of patients with DSD conditions.

Keywords: Congenital adrenal hyperplasia; Disorders of sexual development; Genetic testing; Hypospadias.