Long-term consequences of childhood-onset congenital adrenal hyperplasia

Perrin C. White, Phyllis W. Speiser

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Congenital adrenal hyperplasia (CAH) is a general term applied to several diseases caused by inherited defects of cortisol synthesis. The most common of these is steroid 21-mono-oxygenase (also termed 21-hydroxylase) deficiency (CAH-21OHD), found in approximately 1:10 000-1:15 000 live births. Potentially lethal adrenal insufficiency is characteristic of about two-thirds to three-quarters of patients with the classic salt-wasting form of CAH-21OHD. Non-salt-wasting forms of CAH-21OHD may be diagnosed based in part on genital ambiguity in affected newborn females, and/or by later evidence of androgen excess in members of either sex. Non-classical CAH-21OHD may be detected in up to 1-3% of certain populations, and is often mistaken for idiopathic precocious pubarche in children or polycystic ovary syndrome in young women. This chapter addresses issues relating to long-term consequences in adult life of CAH-21OHD diagnosed in early childhood or adolescence.

Original languageEnglish (US)
Pages (from-to)273-288
Number of pages16
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Issue number2
StatePublished - Jan 1 2002


  • Adrenal hyperplasia
  • Congenital (CAH)
  • Steroid 21-hydroxylase deficiency (CAH-21OHD)
  • Steroid 21-mono-oxygenase deficiency

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


Dive into the research topics of 'Long-term consequences of childhood-onset congenital adrenal hyperplasia'. Together they form a unique fingerprint.

Cite this