Genetic testing of XY newborns with a suspected disorder of sex development

Alimussina, M., Diver, L. A., McGowan, R. and Ahmed, S. F. (2018) Genetic testing of XY newborns with a suspected disorder of sex development. Current Opinion in Pediatrics, 30(4), pp. 548-557. (doi: 10.1097/MOP.0000000000000644) (PMID:29782383)

163257.pdf - Accepted Version


Publisher's URL:


Purpose of review: The current review focuses on the neonatal presentation of disorders of sex development, summarize the current approach to the evaluation of newborns and describes recent advances in understanding of underlying genetic aetiology of these conditions. Recent findings: Several possible candidate genes as well as other adverse environmental factors have been described as contributing to several clinical subgroups of 46,XY DSDs. Moreover, registry-based studies showed that infants with suspected DSD may have extragenital anomalies and in 46,XY cases, being small for gestational age (SGA), cardiac and neurological malformations are the commonest concomitant conditions. Summary: Considering that children and adults with DSD may be at risk of several comorbidities a clear aetiological diagnosis will guide further management. To date, a firm diagnosis is not reached in over half of the cases of 46,XY DSD. Whilst it is likely that improved diagnostic resources will bridge this gap in the future, the next challenge to the clinical community will be to show that such advances will result in an improvement in clinical care.

Item Type:Articles
Additional Information:M.A. is currently supported by The Bolashak International Scholarship, Astana, Republic of Kazakhstan.
Glasgow Author(s) Enlighten ID:Diver, Miss Louise and Ahmed, Professor Syed Faisal and McGowan, Ruth and Alimussina, Dr Malika
Authors: Alimussina, M., Diver, L. A., McGowan, R., and Ahmed, S. F.
College/School:College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health
College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Current Opinion in Pediatrics
Publisher:Lippincott, Williams & Wilkins
ISSN (Online):1531-698X
Published Online:17 May 2018
Copyright Holders:Copyright © 2018 Wolters Kluwer Health, Inc.
First Published:First published in Current Opinion in Pediatrics 30(4):548-557
Publisher Policy:Reproduced in accordance with the copyright policy of the publisher

University Staff: Request a correction | Enlighten Editors: Update this record