[HLA haplotypes in congenital adrenal hyperplasia (21-hydroxylase deficiency].
In order to study HLA haplotypes in congenital adrenal hyperplasia secondary to 21 hydroxylase (21-OH) deficiency, HLA typing was performed in Three families with six affected members. HLA genotypes revealed that in family number 1, two of the three affected members with CAH 21-OH presented salt-losing syndrome and were genotypically identical for HLA A1, B15/A32, Bw35. Family number 2 had two affected members with CAH 21-OH and salt-losing and they were genotypically identical for HLA A11, Bw51/A29, B12. In family number 3, only one of three members presented CAH 21-OH without salt-losing and was HLA homozygous A29, B12/A29, B12; the other two family members were heterozygous with genotype HLA A2, B37/A29, B12. The study suggests that haplotype HLA A29, B12 is related to CAH 21-OH with or without salt-losing syndrome.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics / Q000276:immunology*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006680:HLA Antigens / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007010:Hyponatremia / Q000235:genetics; D008297:Male; D010375:Pedigree; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D005819:Genetic Markers; D006680:HLA Antigens; D013255:Steroid 21-Hydroxylase
Haplotipos HLA en la hiperplasia suprarrenal congénita (deficiencia de 21-hidroxilasa).