HLA and congenital adrenal hyperplasia.
From 25 families, 27 patients with congenital adrenogenital syndrome (AGS) and their 20 healthy siblings were examined for HLA-A, B, C and DR antigens. A statistically significant relationship was found with the HLA phenotype. The frequency of HLA Bw47 which was found only in the patients, suggests a certain disposition for the disease. The presence of HLA B8 and DR3 which were detected only in the healthy siblings, probably implies a resistance to the disease. Among the patients, cases of HLA recombination and homozygous individuals were frequent. Assessment of risk haplotypes involved in hereditary transmission of the condition and the finding of positive and negative associations with HLA antigens might offer significant help in prenatal diagnosis of the disease.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006680:HLA Antigens / Q000032:analysis*; D006720:Homozygote; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011995:Recombination, Genetic; D012965:Sodium Chloride / Q000378:metabolism / Q000627:therapeutic use
D006680:HLA Antigens; D012965:Sodium Chloride; D006854:Hydrocortisone