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  • Title: Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia.
    Author: Lee PA, Gareis JF.
    Journal: J Clin Endocrinol Metab; 1975 Aug; 41(2):415-8. PubMed ID: 169282.
    Abstract:
    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.
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