title: Screening for non-classic 21-hydroxylase deficiency in an HLA-B14 positive population.
abstract: To evaluate whether HLA-B14 positive individuals are at increased risk for non-classic 21-hydroxylase deficiency, the response of progesterone and 17-hydroxyprogesterone to ACTH stimulation test was studied in a group of 27 apparently normal, HLA-B14 positive, blood donors. Four of these subjects showed a response typical of 21-hydroxylase defect. In the present series, the enzymatic defect was found to have a considerably lower prevalence than in a previous study of smaller size (15% vs 66%); however, considering the low frequency of the gene coding for the defect in the general population (0.015-0.057), the present results confirm an increased risk for non-classic 21-hydroxylase deficiency in HLA-B14 positive individuals. Therefore, in these subjects, a screening for 21-hydroxylase deficiency may be indicated.
authors.affiliation: Clinica Medica II, Università di Milano, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Motta
authors.forename: L
authors.initials: L
authors.lastname: Airaghi
authors.forename: A
authors.initials: A
authors.lastname: Catania
authors.forename: I
authors.initials: I
authors.lastname: Mangone
authors.forename: A
authors.initials: A
authors.lastname: Orsatti
authors.forename: L
authors.initials: L
authors.lastname: Tenconi
authors.forename: L
authors.initials: L
authors.lastname: Cantalamessa
authors.forename: C
authors.initials: C
authors.lastname: Zanussi
mesh_terms: D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D000328:Adult; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D015235:HLA-B Antigens; D059909:HLA-B14 Antigen; D006579:Heterozygote; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D008297:Male; D008875:Middle Aged; D011374:Progesterone / Q000097:blood; D012307:Risk Factors; D013250:Steroid Hydroxylases / Q000172:deficiency*
chemical_list: D006680:HLA Antigens; D015235:HLA-B Antigens; D059909:HLA-B14 Antigen; D006908:Hydroxyprogesterones; D011374:Progesterone; D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases