title: HLA haplotypes and hormonal studies in 25 Italian families of patients with classical and non-classical 21-OH deficiency.
abstract: To investigate the genetic polymorphisms of the HLA region and the molecular defect of the P450c21B gene in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, we studied 89 individuals from 25 families of CAH patients (14 classical forms, 11 non-classical forms). The following immunogenetic and hormonal investigations were performed: HLA-A and B typing, restriction fragment length polymorphism (RFLP) analysis of 21-hydroxylase A and B genes, and serum 17-OH-progesterone values determined basally and 60 min after ACTH stimulation. In the patients affected by the classical form, RFLP analysis revealed 5 deletions and 1 gene conversion in 6 haplotypes and no molecular defect in the others, who probably carry point mutations. In the patients with non-classical form we found P450c21A duplication in 11/18 haplotypes; 9 of the 11 patients shared the HLA-B14 allele. Utilizing both hormonal and genetic data we identified two cryptic forms; hormonal data alone failed to differentiate heterozygous from normal individuals.
authors.affiliation: Division of Pediatric Endocrinology, Hospital Regina Margherita, Torino, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Einaudi
authors.forename: I
authors.initials: I
authors.lastname: Borelli
authors.forename: R
authors.initials: R
authors.lastname: Lala
authors.forename: L
authors.initials: L
authors.lastname: Praticŏ
authors.forename: E S
authors.initials: ES
authors.lastname: Curtoni
authors.forename: C
authors.initials: C
authors.lastname: De Sanctis
mesh_terms: D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002648:Child; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D006680:HLA Antigens / Q000235:genetics*; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D007558:Italy; D010641:Phenotype; D017354:Point Mutation; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D015342:DNA Probes; D006680:HLA Antigens; D015234:HLA-A Antigens; D015235:HLA-B Antigens; D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D004247:DNA; D013255:Steroid 21-Hydroxylase