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  • Title: [Diagnosis of heterozygote carrier of mutant gene of 21-hydroxylase].
    Author: Dzenis IG, Iudina TN, Brykova EK, Bakharev VA, Fanchenko ND.
    Journal: Akush Ginekol (Mosk); 1995; (1):21-3. PubMed ID: 7762743.
    Abstract:
    Heterozygotic carriers of 21-hydroxylase deficiency were detected by prolonged ACTH stimulation test. Stepwise discriminant analysis was used for data processing, which helped derive a function: D = 0.052 x X1 + 0.05 x X2 -0.018 x X3 = 0.069, where X1 is 17-hydroxylase concentration 9 h after ACTH infusion, X2 ratio of basel hydrocortisone concentrations to 17-hydroxylase, and X3 ratio of hydrocortisone concentrations to 17-hydroxylase 9 h after ACTH of infusion. Clinical efficacy of detection of heterozygotic carriers was 85%.
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