title: [Diagnosis of heterozygote carrier of mutant gene of 21-hydroxylase].
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%.
authors.forename: I G
authors.initials: IG
authors.lastname: Dzenis
authors.forename: T N
authors.initials: TN
authors.lastname: Iudina
authors.forename: E K
authors.initials: EK
authors.lastname: Brykova
authors.forename: V A
authors.initials: VA
authors.lastname: Bakharev
authors.forename: N D
authors.initials: ND
authors.lastname: Fanchenko
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D000324:Adrenocorticotropic Hormone / Q000008:administration & dosage; D000328:Adult; D000483:Alleles; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D000324:Adrenocorticotropic Hormone; D013255:Steroid 21-Hydroxylase
vernacular_title: Diagnostika geterozigotnogo nositelśtva mutantnogo gena 21-gidroksilazy.