Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

Audi, L. et al. (2018) Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’. European Journal of Endocrinology, 179(4), R197-R206. (doi: 10.1530/EJE-18-0256) (PMID:30299888) (PMCID:PMC6182188)

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The differential diagnosis of differences or disorders of sex development (DSD) belongs to the most complex fields in medicine. It requires a multidisciplinary team conducting a synoptic and complementary approach consisting of thorough clinical, hormonal and genetic workups. This position paper of EU COST (European Cooperation in Science and Technology) Action BM1303 ‘DSDnet’ was written by leading experts in the field and focuses on current best practice in genetic diagnosis in DSD patients. Ascertainment of the karyotpye defines one of the three major diagnostic DSD subclasses and is therefore the mandatory initial step. Subsequently, further analyses comprise molecular studies of monogenic DSD causes or analysis of copy number variations (CNV) or both. Panels of candidate genes provide rapid and reliable results. Whole exome and genome sequencing (WES and WGS) represent valuable methodological developments that are currently in the transition from basic science to clinical routine service in the field of DSD. However, in addition to covering known DSD candidate genes, WES and WGS help to identify novel genetic causes for DSD. Diagnostic interpretation must be performed with utmost caution and needs careful scientific validation in each DSD case.

Item Type:Articles
Additional Information:This article is based upon work from COST Action BM1303 DSDnet, supported by COST (European Cooperation in Science and Technology). O H (chair of COST Action and chair of working group 5), L A (co-chair of COST Action and working group 3), S A W (chair of working group 3), S F A (chair of working group 4), M C (chair of working group 1), N K (working group 3), K McE (chair of working group 2), P M H (working group 3), A G (working group 2), A B (working group 2) as well as R McG (international partner) appreciate support from BMBS COST Action BM1303.
Glasgow Author(s) Enlighten ID:Ahmed, Professor Syed Faisal
Authors: Audi, L., Ahmed, S. F., Krone, N., Cools, M., McElreavey, K., Holterhus, P.M., Greenfield, A., Bashamboo, A., Hiort, O., Wudy, S.A., and McGowan, R.
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:European Journal of Endocrinology
ISSN (Online):1479-683X
Copyright Holders:Copyright © 2018 The Authors
First Published:First published in IEuropean Journal of Endocrinology 179(4):R197-R206
Publisher Policy:Reproduced under a Creative Commons License

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