Prenatal management of disorders of sex development

J Pediatr Urol. 2012 Dec;8(6):576-84. doi: 10.1016/j.jpurol.2012.10.012. Epub 2012 Nov 4.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnostic imaging
  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenal Hyperplasia, Congenital / therapy
  • Disorders of Sex Development / diagnostic imaging*
  • Disorders of Sex Development / genetics*
  • Disorders of Sex Development / therapy
  • Female
  • Genetic Testing*
  • Humans
  • Male
  • Pregnancy
  • Prenatal Care / methods
  • Sex Determination Analysis*
  • Ultrasonography, Prenatal*