title: HLA typing of patients with 21-hydroxylase deficiency in Iranian children with congenital adrenal hyperplasia.
abstract: Congenital adrenal hyperplasia (CAH) is a group of potentially life-threatening disorders, most often caused by deficiency of steroid 21-hydroxylase. Children with ambiguous genitalia, hermaphroditism, or signs and symptoms of CAH admitted to Children's Medical Center were enrolled in the survey, and 101 patients were found. Karyotyping, clinical examination, and paraclinical tests were done. HLA typing was done in patients with proven classical CAH and their parents. HLA antigens were typed in children with CAH-type 21-hydroxylase deficiency. The antigen frequencies were compared with those of the control population. The studies revealed that two HLA antigens, HLA-B18 and HLA-B21, showed a significant increase in frequency. The calculated relative risk value was high, distinguishing the population of patients and their parents. The relative risk among patients was 11.82 for HLA-B18 and 1.75 for HLA-B21 antigens. There was no relationship between HLA-DR antigens and CAH. Studies on the correlation between HLA and CAH indicate an association with HLA-B18 and HLA-B21 antigens, and they can be used as genetic markers of the disorder in the Iranian population, if they are restricted to Iranian patients.
authors.affiliation: Anatomical and Clinical Pathology Department, Children's Medical Center Hospital, Tehran University of Medical Sciences, Keshavarz Boulevard, Tehran, Iran.
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Haghi Ashtiani
authors.forename: Ali
authors.initials: A
authors.lastname: Rabbani
authors.forename: Fereidoun
authors.initials: F
authors.lastname: Mostafavi
authors.forename: Maryam
authors.initials: M
authors.lastname: Monajemzadeh
authors.forename: Fahimeh
authors.initials: F
authors.lastname: Ranjbar Kermani
authors.forename: Jila
authors.initials: J
authors.lastname: Soltaninia
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005819:Genetic Markers / Q000276:immunology; D015235:HLA-B Antigens / Q000235:genetics / Q000276:immunology*; D059911:HLA-B18 Antigen; D006650:Histocompatibility Testing; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D013255:Steroid 21-Hydroxylase / Q000235:genetics* / Q000276:immunology
chemical_list: D005819:Genetic Markers; D015235:HLA-B Antigens; D059911:HLA-B18 Antigen; C063569:HLA-B21 antigen; D013255:Steroid 21-Hydroxylase