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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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.
| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| 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: | 1179-9870 |
| 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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