Abstract
A collaborative study revealed an unusually high frequency of congenital adrenal hyperplasia (CAH) due to C-11 OH deficiency in Israel. Seventeen families with 24 affected individuals were identified, mostly originating from North Africa. The diagnosis was based on clinical features and confirmed by the presence of high levels of urinary tetrahydro 11-deoxycortisol. Since both the C-11 and C-21 hydroxylating enzymes participate in the same adrenal biosynthetic pathways of steroids and 21-OH has been shown to be linked to HLA, we investigated the HLA antigens in our families. HLA antigens of the A, B and C loci were determined in 11 families which included 13 affected and 19 healthy children. Analysis of the data revealed that affected sibs did not share both haplotypes, and in addition, in several families unaffected siblings shared both haplotypes with the patients. Thus, no linkage between the C-11 OH variant of CAH and the HLA system was observed.
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Lieberman, E., Rösler, A., Cohen, T. et al. ABSENCE OF LINKAGE BETWEEN C-11 OH DEFICIENT CONGENITAL ADRENAL HYPERPLASIA AND HLA. Pediatr Res 12, 1088 (1978). https://doi.org/10.1203/00006450-197811000-00043
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DOI: https://doi.org/10.1203/00006450-197811000-00043