Prenatal diagnosis and treatment of congenital adrenal hyperplasia

Saroj Nimkarn, Maria I. New

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations


Congenital adrenal hyperplasia (CAH) is a group of inherited disorders caused by enzyme deficiencies in steroid biosynthesis, which disrupt the conversion of cholesterol to cortisol. The most common form of CAH is 21-hydroxylase deficiency (21-OHD). In its severe form, 21-OHD causes prenatal virilization of external female genitalia. Through molecular genetic analysis of fetal DNA, defects in 21-OH synthesis can be diagnosed in utero. Genital ambiguity in females can be reduced or eliminated with prenatal dexamethasone treatment, which successfully suppresses fetal androgen production. Data from current, large cohort studies show that prenatal diagnosis and treatment are safe and effective.

Original languageEnglish
Pages (from-to)99-105
Number of pages7
JournalPediatric Endocrinology Reviews
Issue number2
StatePublished - Dec 2006


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


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