TY - JOUR
T1 - Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone
AU - Krensky, A. M.
AU - Bongiovanni, A. M.
AU - Marino, J.
AU - Parks, J.
AU - Tenore, A.
PY - 1977/1/1
Y1 - 1977/1/1
N2 - 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.
AB - 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.
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U2 - 10.1016/S0022-3476(77)80561-1
DO - 10.1016/S0022-3476(77)80561-1
M3 - Article
C2 - 859065
AN - SCOPUS:0017505484
VL - 90
SP - 930
EP - 933
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 6
ER -