Data on HLA typing in patients with CAH have indicated an association of certain forms of CAH to specific HLA antigens. We looked for HLA ABC antigens in 136 subjects belonging to 41 families, of hellenic origin, with one or two members affected with CAH, and in 380 apparently normal individuals who served as controls. For the calculations only one affected member from each family was inserted. We found the HLA B14 antigen in 42.8% of cases with the latent form of CAH (LF) versus 5% of the controls (p 0.001). The HLA B7 antigen was found in 23% of subjects with the salt wasting form (SW) versus 7.6% of the controls (p 0.05). The A3 antigen was found in 41% in SW versus 17% of the controls (p 0.02). All indiviluals with SW and HLA B7 antigen have A3B7 haplotype. No other antigens showed an association to any form of the disease. More specifically the HLA B5 antigen, found by others in increased frequency in the simple virilizing form of CAH, was not found increased in our group (35.5% in the affected versus 33.1% in the controls). Thus while the B14 antigen seems to be associated with a specific form of CAH in individuals of different ethnic and geographical background, this is not so with other CAH associated HLA antigens. The interpretation of this heterogenuity is only speculative at present.
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