Abstract
Hormonal response to 6 hour ACTH stimulation was determined in 24 sibs predicted to be heterozygous carriers of the gene for 21-OH-def. by HLA genotyping and 14 parents, obligate heterozygotes. Confirming the findings of Grosse-Wilde, et al (Immunogenetics, 8:41, 1979) in pre-pubertal children and post-pubertal males predicted to be heterozygous carriers of the gene based on HLA genotyping, the mean 17-OH-P levels (13, 17 ng/ml respectively) were significantly higher (p<.001) than in the control children and adults (3.9, 5.3 ng/ml respectively). In post-menarchal females the mean 17-OH-P response in the heterozygotes (12.1 ng/ml) was significantly higher (p<.005) than in the general population (5.2 ng/ml); however the overlapping values did not permit a clear differentiation of the hormonal responses in these two groups. Plasma ACTH levels and all other ACTH stimulated steroids including 17-OH pregnenolone, 11-desoxycortisol, cortisol, progesterone, DOC, B, aldosterone, Δ-4-androstenedione, dehydroepiandrosterone, and testosterone whether analyzed alone or in combination did not discriminate between the control population and the heterozygotes. In summary, in sibs predicted to be heterozygous by HLA genotyping and obligate heterozygote parents, mild 21 hydroxlase deficiency was expressed in the 17 hydroxy pathway but was not evident in the 17-desoxy pathway or C19 androgens after ACTH stimulation.
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Lorenzen, F., Pang, S., New, M. et al. Studies of the 17-desoxy, 17-hydroxy, and C19 androgens in conjunction with congenital adrenal hyperplasia (21-OH deficiency).. Pediatr Res 13, 1186 (1979). https://doi.org/10.1203/00006450-197910000-00034
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DOI: https://doi.org/10.1203/00006450-197910000-00034