Abstract
The prevalence of autoantibodies has been reported to be increased in both patients with Turner's syndrome and their parents. We evaluated organ-specific and non-organ-specific autoantibodies in 95 patients, ranging in age from infancy to adulthood, and in most of their parents, in order to determine the characteristics of autoimmune disorders in these families and to relate it to the genetic markers usually involved in autoimmunity (HLA, GM and KM genes). A statistically significant difference was observed between Turner patients and controls in the frequencies of organ-specific autoantibodies, in particular thyroid microsomal antibodies and thyroglobulin antibodies; however, the presence of autoantibodies was not associated with overt diseases in most cases. No significant difference was found between parents and controls. A study of the inheritance of the autoimmunity showed that transmission was preferentially paternal, since Turner patients had more chance of presenting autoantibodies when their fathers had autoantibodies rather than their mothers. A positive association was found between the presence of auto-antibodies and HLA-DR7;DQ2 and HLA-DR7;DQ9 haplotypes in Turner patients and fathers. No significant association was found between GM and KM allotype frequencies in Turner patients and their parents and the presence of autoantibodies. No epistatic interaction was demonstrated between HLA and GM or KM genes. Familial segregation was studied and a preferentially paternal transmission of HLA-DR7-carrying haplotypes and possibly also of the KM (1) allotype with autoimmunity was observed.