title: [Diagnosis of the heterozygote carrier state in 21-hydroxylase deficiency using steroids].
abstract: In an attempt to elaborate a method for screening heterozygous carriers of inborn adrenal hyperplasia caused by insufficiency of steroid 21-hydroxylase, the authors examined in 24 obligatory heterozygotes and in seven controls the concentrations of four steroids. Cortisol (F), 11 beta-hydroxyandrostendione (11-OH), 17 alpha-hydroxyprogesterone (17-OH) and androstendione (A) were estimated by the RIA method using non-commercial antisera. In the examined subjects an abbreviated ACTH test was made and the mentioned parameters were assessed at times 0, 30 and 60 minutes. The results (nmol/l) were expressed by the relationship R = F.11-OH/17-OH.A for all investigated time intervals. The coefficient R60 or difference of coefficients delta R = R60-R0 differed significantly and overlapped to a minimum extent in the group of heterozygotes and controls. The authors assume that the suggested method for the detection of carriership of 21-hydroxylase insufficiency could be used in genetic counselling.
authors.affiliation: Výzkumný ústav endokrinologický, Praha.
authors.forename: J
authors.initials: J
authors.lastname: Sulcová
authors.forename: R
authors.initials: R
authors.lastname: Hampl
authors.forename: L
authors.initials: L
authors.lastname: Foretová
authors.forename: V
authors.initials: V
authors.lastname: Vána
authors.forename: L
authors.initials: L
authors.lastname: Stárka
mesh_terms: D019326:17-alpha-Hydroxyprogesterone; D000304:Adrenal Cortex Function Tests; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D000324:Adrenocorticotropic Hormone; D000735:Androstenedione / Q000031:analogs & derivatives / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006908:Hydroxyprogesterones / Q000097:blood; D008297:Male
chemical_list: D006908:Hydroxyprogesterones; D000735:Androstenedione; C003582:11-hydroxyandrostenedione; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone
vernacular_title: Steroidní diagnostika heterozygotního prenasecství nedostatecnosti 21-hydroxylázy.