Familial insulin resistance and acanthosis nigricans. Presence of a postbinding defect.
Type A insulin resistance, associated with acanthosis nigricans and menstrual irregularity, has been ascribed to a decreased concentration of insulin receptors. We now report four affected females from one family, a mother and three daughters (including identical twins) who appear to have the type A syndrome. Two of the kindred had no apparent ovarian dysfunction, while the other two had hyperprolactinemia without other findings of polycystic ovary disease, suggesting a genetic disease with variable penetrance. All had normal erythrocyte and monocyte insulin binding. Insulin dose-response studies to assess glucose metabolism and insulin sensitivity were performed in the affected twins. The dose response to insulin was shifted to the right with a decrease in maximal response. These results are consistent with a postbinding defect in insulin action in these patients.
D000052:Acanthosis Nigricans / Q000235:genetics* / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D001786:Blood Glucose / Q000032:analysis; D004200:Diseases in Twins; D005260:Female; D005951:Glucose Tolerance Test; D006801:Humans; D006966:Hyperprolactinemia / Q000235:genetics; D007328:Insulin / Q000097:blood / Q000378:metabolism; D008297:Male; D010375:Pedigree
D001786:Blood Glucose; D007328:Insulin