4.1 Article

Prenatal management of disorders of Sex development

Journal

JOURNAL OF PEDIATRIC UROLOGY
Volume 8, Issue 6, Pages 576-584

Publisher

ELSEVIER SCI LTD
DOI: 10.1016/j.jpurol.2012.10.012

Keywords

Prenatal diagnosis; Fetal ultrasound; Prenatal management; Disorders of sex development; Ambiguous genitalia; Congenital adrenal hyperplasia

Funding

  1. Great Ormond Street Children's Charity
  2. National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre
  3. National Institutes of Health Research (NIHR) [RP-PG-0707-10107] Funding Source: National Institutes of Health Research (NIHR)
  4. National Institute for Health Research [RP-PG-0707-10107] Funding Source: researchfish

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Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues. In this brief review, we present an overview of the prenatal presentation and management of DSD, including the sonographic appearance of normal genitalia and methods of determining genetic sex, the prenatal management of pregnancies with the unexpected finding of genital ambiguity on prenatal ultrasound and a review of the prenatal management of pregnancies at high risk of DSD. As this is a rapidly developing field, management options will change over time, making the involvement of clinical geneticists, paediatric endocrinologists and urologists, as well as fetal medicine specialists, essential in the care of these complex pregnancies. The reader should also bear in mind that local social, ethical and legal aspects may also influence management. (C) 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

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