Congenital adrenal hyperplasias

Research output: Contribution to journalArticlepeer-review

25 Scopus citations


Congenital adrenal hyperplasia syndromes result from deficiencies of enzymes involved in corticosteroid biosynthesis. Most commonly, they are due to mutations in 21-hydroxylase. This chapter describes the clinical diagnosis and management of congenital adrenal hyperplasias throughout life, including in the fetus, child and adult. These clinical recommendations are explained in the context of the molecular and biochemical characteristics of the diseases.

Original languageEnglish (US)
Pages (from-to)17-41
Number of pages25
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Issue number1
StatePublished - 2001


  • Adrenal hyperplasia
  • Aldosterone
  • Androgens
  • Congenital
  • Cytochrome P-450
  • HLA antigens
  • Hydrocortisone
  • Inborn errors
  • Metabolism
  • Sex differentiation disorders
  • Steroid 21-monooxygenase
  • Virilism

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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