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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Disorders of sex development: effect of molecular diagnostics

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Author(s):
Achermann, John C. [1] ; Domenice, Sorahia [2] ; Bachega, Tania A. S. S. [2] ; Nishi, Mirian Y. [2] ; Mendonca, Berenice B. [2]
Total Authors: 5
Affiliation:
[1] UCL, Inst Child Hlth, Dev Endocrinol Res Grp, Genet & Genom Med, London WC1N 1EH - England
[2] Univ Sao Paulo, Fac Med, Hosp Clin, Disciplina Endocrinol, Unidade Endocrinol Desenvolvimento, Lab Hormonios, BR-05403900 Sao Paulo - Brazil
Total Affiliations: 2
Document type: Review article
Source: NATURE REVIEWS ENDOCRINOLOGY; v. 11, n. 8, p. 478-488, AUG 2015.
Web of Science Citations: 28
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. (AU)

FAPESP's process: 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine
Grantee:Berenice Bilharinho de Mendonça
Support Opportunities: Research Projects - Thematic Grants