title: [Detection of heterozygosity in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the general population].
abstract: The detection of heterozygotes among the family members of the patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OH) can be done by means of two methods: typing of HLA as the first and measuring of 17-hydroxyprogesterone (17-OHP) concentrations before and 60 or 360 minutes after ACTH stimulation as the second one. In general population, however, heterozygotes can be revealed only by means of the latter method. Nowadays, the shorter, 60-minute ACTH test predominates, because of being fast and simple test to perform. Thus, with the certain degree of reliability healthy homozygotes can be distinguished from heterozygotes for CAH due to 21-OH deficiency. This study presents the results obtained by measuring concentrations of 17-OHP before and 60 minutes after ACTH stimulation in 69 examinees ranged in four groups: patients with classic type of CAH due to 21-OH deficiency (7 examinees), heterozygotes revealed by means of HLA typing (parents, brothers and sisters of patients--29 examinees), healthy homozygotes proved by means of HLA typing (brothers and sisters of patients--5 examinees) and finally examinees chosen from general population of unknown genotype (28 examinees). The results obtained by measuring concentrations of 17-OHP before and 60 minutes after ACTH stimulation are presented in form of a nomogram and represent the referred data for our population. By using a computer programme and the estimation method it is estimated that 15% of heterozygotes could be by mistake declared as healthy homozygotes (false negative results) and 15% of healthy homozygotes, respectively (false positive results). It should be included in interpretation of the results.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Klinika za djecje bolesti, KBC, Medicinski fakultet Sveucilista u Zagrebu.
authors.forename: M
authors.initials: M
authors.lastname: Dumić
authors.forename: M
authors.initials: M
authors.lastname: Lukenda
authors.forename: V
authors.initials: V
authors.lastname: Plavsić
authors.forename: L
authors.initials: L
authors.lastname: Brkljacić
authors.forename: V
authors.initials: V
authors.lastname: Jovanović
authors.forename: A
authors.initials: A
authors.lastname: Kastelan
mesh_terms: D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D000324:Adrenocorticotropic Hormone; D006580:Genetic Carrier Screening / Q000379:methods; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood
chemical_list: D006680:HLA Antigens; D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone
vernacular_title: Otkrivanje heterozigota za kongenitalnu adrenalnu hiperplaziju zbog nedostatka 21-hidroksilaze u općoj populaciji.