The biochemical basis for genotyping 21-hydroxylase deficiency

Maria I. New, Bo Dupont, Marilyn S. Pollack, Lenore S. Levine

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


We describe three different forms of 21-hydroxylase deficiency-classical congenital adrenal hyperplasia (CAH), late-onset 21-hydroxylase deficiency, and cryptic 21-hydroxylase deficiency-and we present hormonal standards by which to assign the appropriate 21-hydroxylase deficiency genotype for these disorders. The late-onset and cryptic forms of 21-hydroxylase deficiency are biochemically indistinguishable, although patients with the late-onset disorder present with marked clinical symptoms (e.g. virilization) whereas patients with cryptic 21-hydroxylase deficiency are clinically asymptomatic. Our latest studies suggest that late-onset 21-hydroxylase deficiency, like the classical and cryptic 21-hydroxylase deficiencies, is also genetically linked to HLA, the major histocompatibility complex of man. Our biochemical findings provide evidence that a spectrum of 21-hydroxylase deficiencies exist in the population.

Original languageEnglish (US)
Pages (from-to)123-127
Number of pages5
JournalHuman Genetics
Issue number1
StatePublished - Aug 1981
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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