Prenatal Diagnosis of Congenital Adrenal Hyperplasia

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17 Scopus citations


Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females.

Original languageEnglish
Pages (from-to)267-281
Number of pages15
JournalEndocrinology and Metabolism Clinics of North America
Issue number2
StatePublished - 1 Jun 2016


  • 21-Hydroxylase deficiency
  • Amniocentesis
  • Congenital adrenal hyperplasia
  • Fetal sex determination


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