Disorders of sex development: advances in genetic diagnosis and challenges in management

Kyriakou, A., Lucas-Herald, A. K. , McGowan, R., Tobias, E. S. and Ahmed, S. F. (2015) Disorders of sex development: advances in genetic diagnosis and challenges in management. Advances in Genomics and Genetics, 5, pp. 165-177. (doi: 10.2147/AGG.S53226)

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Disorders of sex development (DSD) are a group of rare conditions that usually present with atypical genitalia in the newborn period or as delayed puberty in an adolescent. Although a concern about the development of external genitalia may exist in one in 300 newborn infants, discrete genetic conditions that underlie DSD are generally rarely identified. It is likely that this diagnostic gap exists for a number of reasons and these include an inadequate knowledge of the pathogenesis and underlying mechanisms that lead to DSD, variation in assessment and in-depth phenotyping of these rare conditions, inadequate availability of quality accredited laboratories and, lastly, limited awareness of the value of a molecular genetic diagnosis for improving short-term and long-term care of the affected person.

Item Type:Articles
Glasgow Author(s) Enlighten ID:Kyriakou, Dr Andreas and Tobias, Professor Edward and Lucas-Herald, Dr Angela
Authors: Kyriakou, A., Lucas-Herald, A. K., McGowan, R., Tobias, E. S., and Ahmed, S. F.
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Advances in Genomics and Genetics
Publisher:Dove Medical Press Ltd.
ISSN (Online):1179-9870
Copyright Holders:Copyright © 2015 Kyriakou
First Published:First published in Advances in Genomics and Genetics 5:165-177
Publisher Policy:Reproduced under a creative commons license

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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
645661Exome Sequencing for the Genetic Diagnosis of Rare Diseases: Fostering a New Working Relationship between the NHS, the University of Glasgow and Glasgow Polyomics (ISSF)Edward TobiasWellcome Trust (WELLCOME)097821/Z/11/AMVLS MED - MEDICAL GENETICS
557261The International DSD Network (I-DSD)Syed Faisal AhmedMedical Research Council (MRC)G1100236SCHOOL OF MEDICINE