[Diagnosis of heterozygote carrier of mutant gene of 21-hydroxylase].
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%.
Dzenis
I G
IG
Iudina
T N
TN
Brykova
E K
EK
Bakharev
V A
VA
Fanchenko
N D
ND
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*
D000324:Adrenocorticotropic Hormone; D013255:Steroid 21-Hydroxylase
Diagnostika geterozigotnogo nositelśtva mutantnogo gena 21-gidroksilazy.