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Disorders of sex development: effect of molecular diagnostics

Achermann, JC; Domenice, S; Bachega, TASS; Nishi, MY; Mendonca, BB; (2015) Disorders of sex development: effect of molecular diagnostics. Nature Reviews Endocrinology , 11 (8) pp. 478-488. 10.1038/nrendo.2015.69. Green open access

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Abstract

Disorders of sex development (DSDs) are a diverse group of conditions that can be challenging to diagnose accurately using standard phenotypic and biochemical approaches. Obtaining a specific diagnosis can be important for identifying potentially life-threatening associated disorders, as well as providing information to guide parents in deciding on the most appropriate management for their child. Within the past 5 years, advances in molecular methodologies have helped to identify several novel causes of DSDs; molecular tests to aid diagnosis and genetic counselling have now been adopted into clinical practice. Occasionally, genetic profiling of embryos prior to implantation as an adjunct to assisted reproduction, prenatal diagnosis of at-risk pregnancies and confirmatory testing of positive results found during newborn biochemical screening are performed. Of the available genetic tests, the candidate gene approach is the most popular. New high-throughput DNA analysis could enable a genetic diagnosis to be made when the aetiology is unknown or many differential diagnoses are possible. Nonetheless, concerns exist about the use of genetic tests. For instance, a diagnosis is not always possible even using new molecular approaches (which can be worrying for the parents) and incidental information obtained during the test might cause anxiety. Careful selection of the genetic test indicated for each condition remains important for good clinical practice. The purpose of this Review is to describe advances in molecular biological techniques for diagnosing DSDs.

Type: Article
Title: Disorders of sex development: effect of molecular diagnostics
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/nrendo.2015.69
Publisher version: http://dx.doi.org/10.1038/nrendo.2015.69
Language: English
Additional information: © 2015 Macmillan Publishers Limited. All rights reserved.
Keywords: Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, CONGENITAL ADRENAL-HYPERPLASIA, ANDROGEN INSENSITIVITY SYNDROME, MIXED GONADAL-DYSGENESIS, FREE FETAL DNA, 17-BETA-HYDROXYSTEROID DEHYDROGENASE-3 DEFICIENCY, P450 OXIDOREDUCTASE DEFICIENCY, NONINVASIVE PRENATAL-DIAGNOSIS, 5-ALPHA-REDUCTASE 2 DEFICIENCY, HUMAN TESTIS DETERMINATION, 21-HYDROXYLASE DEFICIENCY, Disease genetics Endocrine reproductive disorders Genetic testing Paediatric research
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1492403
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