Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone

A. M. Krensky, A. M. Bongiovanni, J. Marino, J. Parks*, A. Tenore

*Corresponding author for this work

Research output: Contribution to journalArticle

43 Scopus citations


The response to administered adrenocorticotropin (ACTH, Cortrosyn) of 26 heterozygotes (parents of children with adrenal 21-hydroxylase deficiency) and of 14 controls are compared. The mean plasma levels of 4-pregnene-3, 20-dione-17, 21-diol (17-OH progesterone) were significantly greater in the heterozygotes 60 minutes (p<0.02) and 90 minutes (p<0.05) after stimulation with Cortrosyn than in controls. There is, however, considerable overlap. The results would indicate a partial enzyme deficiency in the parents of diseased subjects. There was no significant difference in the response of plasma cortisol.

Original languageEnglish (US)
Pages (from-to)930-933
Number of pages4
JournalThe Journal of pediatrics
Issue number6
Publication statusPublished - Jan 1 1977


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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