Congenital Adrenal Hyperplasia

P. C. White, M. I. New, B. Dupont

Research output: Contribution to journalReview article

161 Scopus citations

Abstract

(First of Two Parts) CONGENITAL adrenal hyperplasia results from an inherited defect in any of the five enzymatic steps required to synthesize Cortisol from cholesterol. A defect in a particular step may be manifested clinically, not only because cortisol and other steroid hormones are not synthesized effectively but also because precursor steroids proximal to the blocked step may accumulate and be shunted into other metabolic pathways, particularly that of androgen biosynthesis. For example, in one of the earliest reports (in 1865) of a case of congenital adrenal hyperplasia, de Crecchio described a person who was considered to be a female…

Original languageEnglish (US)
Pages (from-to)1519-1524
Number of pages6
JournalNew England Journal of Medicine
Volume316
Issue number24
DOIs
StatePublished - Jun 11 1987

ASJC Scopus subject areas

  • Medicine(all)

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