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

Authors Kyriakou A, Lucas-Herald AK, McGowan R, Tobias ES, Ahmed SF

Received 9 January 2015

Accepted for publication 2 March 2015

Published 8 April 2015 Volume 2015:5 Pages 165—177

DOI https://doi.org/10.2147/AGG.S53226

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 3

Editor who approved publication: Dr John Martignetti

Andreas Kyriakou,1 Angela K Lucas-Herald,1 Ruth McGowan,2 Edward S Tobias,2 S Faisal Ahmed1

1Developmental Endocrinology Research Group, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK; 2Medical Genetics, Southern General Hospital, Glasgow, UK

Abstract: 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.

Keywords: DSD, genetics, novel, rare disease, genomics, NGS

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