Prenatal diagnosis and treatment of congenital adrenal hyperplasia

Saroj Nimkarn, Maria I. New

Research output: Contribution to journalShort surveypeer-review

39 Scopus citations


Congenital adrenal hyperplasia is a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. Steroid 21-hydroxylase deficiency can be diagnosed in utero through molecular genetic analysis of fetal DNA. Prenatal treatment successfully reduces genital ambiguity, and the subsequent problems of sex misassignment and gender confusion. Data from current studies show that prenatal diagnosis and treatment are safe for the mother and the fetus. The evidence also suggests that it is safe over the long term, but all subjects exposed to dexamethasone treatment during embryonic and fetal life should have their physical, cognitive and emotional developments recorded.

Original languageEnglish
Pages (from-to)53-60
Number of pages8
JournalHormone Research
Issue number2
StatePublished - Feb 2007


  • 21-hydroxylase deficiency
  • Congenital adrenal hyperplasia
  • Prenatal diagnosis
  • Prenatal treatment
  • Steroid hydroxylases


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