Malformation syndromes associated with disorders of sex development

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

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.

Publication types

  • Review

MeSH terms

  • Animals
  • Cleft Palate / genetics
  • Denys-Drash Syndrome / genetics
  • Disorders of Sex Development / genetics*
  • Esophagus / abnormalities
  • Female
  • Frasier Syndrome / genetics
  • Genetic Diseases, X-Linked / genetics
  • Genitalia / abnormalities*
  • Gonadal Dysgenesis / genetics
  • Gonadal Dysgenesis, 46,XY / genetics
  • Humans
  • Hypertelorism / genetics
  • Hypogonadism / genetics
  • Hypospadias / genetics
  • Male
  • Mental Retardation, X-Linked / genetics
  • Turner Syndrome / genetics
  • WAGR Syndrome / genetics
  • alpha-Thalassemia / genetics

Supplementary concepts

  • ATR-X syndrome
  • Opitz GBBB Syndrome, X-Linked