Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia.
Concentrations of 17-hydroxyprogesterone are significantly greater in heterozygous carriers of CVAH than in controls 30 and 60 minutes after an infusion of 25 units of synthetic ACTH 1-24 and 2 hours after beginning a 4-hour infusion of 50 units ACTH. The majority of carriers were clearly above the control range at these collection times. Hence, heterozygous carriers have a partial enzyme deficiency although all cannot be diagnosed based on 17-hydroxyprogesterone levels after ACTH stimulation.
D000312:Adrenal Hyperplasia, Congenital; D000308:Adrenocortical Hyperfunction / Q000378:metabolism*; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D000328:Adult; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006908:Hydroxyprogesterones / Q000097:blood*; D008297:Male; D010375:Pedigree; D013250:Steroid Hydroxylases / Q000378:metabolism*; D013997:Time Factors
D006908:Hydroxyprogesterones; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases; D006854:Hydrocortisone