Congenital adrenal hyperplasia

Robert C. Wilson, Maria I. New

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

2 Scopus citations


Congenital adrenal hyperplasia is a family of autosomal-recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis. This chapter discusses adrenal steroidogenesis, 21-hyroxylase deficiency, 11 β-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, 17α hydroxylase/17,20- lyase deficiency, lipoid congenital adrenal hyperplasia, and various treatments.

Original languageEnglish
Title of host publicationPrinciples of Molecular Medicine
PublisherHumana Press
Number of pages12
ISBN (Print)9781588292025
StatePublished - 2006


  • 17α hydroxylase/17
  • 20-lyase deficiency
  • 21-hydroxylase deficiency (21-OHD)
  • 3β-hydroxysteroid dehydrogenase deficiency
  • Adrenal steroidogenesis
  • adrenal hyperplasia
  • congenital adrenal
  • hyperplasia (CAH)
  • lipoid congenital
  • salt wasting


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