J Pediatr. 1977 Jun;90(6):930-3.

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

Krensky AM, Bongiovanni AM, Marino J, Parks J, Tenore A.

Abstract

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 less than 0.02) and 90 minutes (p less than 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.

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Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia. [J Clin Endocrinol Metab. 1975]
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Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone.

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