Format

Send to

Choose Destination
Nat Rev Endocrinol. 2014 Aug;10(8):476-87. doi: 10.1038/nrendo.2014.83. Epub 2014 Jun 10.

Malformation syndromes associated with disorders of sex development.

Author information

1
Department of Urology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, Australia.
2
Department of Gynaecology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, Australia.
3
Department of Endocrinology, The Royal Children's Hospital, Flemington Road, Melbourne, VIC 3051, Australia.
4
Department of Surgery, Austin Hospital, Studley Park Road, Heidelberg, Melbourne, VIC 3058, Australia.

Abstract

When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia.

PMID:
24913517
DOI:
10.1038/nrendo.2014.83
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center