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    An Esp Pediatr. 1984 Oct 31;21(6):583-6.

    [HLA haplotypes in congenital adrenal hyperplasia (21-hydroxylase deficiency]

    [Article in Spanish]

    González-Díaz JP, González T, González-Espinosa C, Gantes M, Santisteban M, Bustad S.

    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.

    PMID: 6335362 [PubMed - indexed for MEDLINE]

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