Ascertainment of 21-hydroxylase deficiency in individuals with HLA-B14 haplotype

Samuel M. Libber, Claude J. Migeon, Wilma B. Bias

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


21-Hydroxylase activity was measured in North American Caucasian individuals with the HLA-B14 antigen to estimate the frequency of heterozygosity for the attenuated congenital adrenal hyperplasia trait. A 30-min iv ACTH stimulation test was administered to 9 normal HLA-Bl4-positive subjects and to a comparable HLA-Bl4-negative control group. Changes in plasma progesterone and 17-hydroxyprogesterone over 30 min were summed and expressed as a combined rate of rise. Six of 9 HLA-Bl4-positive individuals had a rate of rise greater than 2 SD above the mean control value. On this basis, about two thirds of B-14-positive individuals are heterozygote carriers for 21-hydroxylase deficiency. Thus, the frequency of the attenuated form of congenital adrenal hyperplasia linked to the HLA-B14 locus in women is approximately 1 in 6000 if there is only 1 B14, and 1 in 2000 if there are 2 Bl4s in the HLA type.

Original languageEnglish (US)
Pages (from-to)727-730
Number of pages4
JournalJournal of Clinical Endocrinology and Metabolism
Issue number4
StatePublished - Apr 1985

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical


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