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- W2046050355 abstract "Most members of six families in whom one subject was known to have Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency were haplotyped for HLA B antigen which was supposed to be linked to the defective gene. Heterozygous males (group 1, n = 6), and females (group 3, n = 6) were individualized. They had no clinical abnormalities. Every hétérozygote, eight normal males (group 2) and six normal females (group 4) received an i.m. injection of ACTH®. Plasma before (PRE) and 3 h after (POST) the injection was assayed for cortisol, testosterone, androstenedione, 17-hydroxyprogesterone (17-OHP), and dehydroepiandrosterone. All steroids increased significantly POST except testosterone. The ratio cortisol/17-OHP (F/17-OHP) decreased in group 1. POST 17-OHP (ng/ml) was higher and F/17-OHP lower in groups 1 and 3 (x ± SEM) respectively: (5.72 ± 1.66, 65.9 ± 20.5; 4.82 ± 1.10, 66.4 ± 22.6) than in groups 2 and 4: (1.95 ± 0.72, 185.9 ± 67.3; 1.72 ± 0.76, 351 ± 230.8) POST F were not different between groups. When the distributions were standardized, most individual POST 17-OHP of heterozygotes were different from the POST 17-OHP mean of the respective normal group. The two normal males from the affected families did not demonstrate any significant difference from normal males." @default.
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- W2046050355 date "1981-10-01" @default.
- W2046050355 modified "2023-09-26" @default.
- W2046050355 title "Hormonal profiles of heterozygotes in humans for 21-hydroxylase deficiency defined by HLA B typing" @default.
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- W2046050355 doi "https://doi.org/10.1016/0022-4731(81)90215-6" @default.
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