Insulin resistance in a boy with congenital generalized lipodystrophy

Pediatr Res. 1988 Dec;24(6):668-72. doi: 10.1203/00006450-198812000-00003.

Abstract

We have studied insulin resistance in a 12-year-old Japanese boy who presented with congenital generalized lipodystrophy. Oral glucose tolerance test exhibited a diabetic pattern with normal fasting plasma glucose. Results from euglycemic glucose clamp study showed decreases in both insulin sensitivity and responsiveness. Both the patient's erythrocytes and Epstein-Barr virus transformed lymphocytes showed low-normal insulin binding with a slight reduction in binding affinity in the latter. Insulin binding to the cultured fibroblasts was decreased due to a lowered affinity. In addition, they displayed a rightward shift of the insulin dose-response curve for D-14C-glucose uptake with no decrease in the maximum uptake. Insulin-stimulated autophosphorylation and kinase activity of the wheat germ agglutinin purified receptors from the Epstein-Barr virus-transformed lymphocytes appeared normal. The reason for some discrepancies in insulin binding among the cells remains unknown, and we cannot formulate a conclusion as to whether or not a primary binding defect of insulin receptors exists and contributes to insulin resistance in the patient. The decrease in insulin responsiveness demonstrated in the glucose clamp study may result from a defect at the rate-limiting step in the postbinding process of insulin action, presumably a defect in the glucose transport system in muscle tissues. The defect may be secondary to changes in in vivo circumstances.

Publication types

  • Case Reports

MeSH terms

  • Cell Line, Transformed
  • Cells, Cultured
  • Child
  • Erythrocytes / metabolism
  • Fibroblasts / metabolism
  • Glucose Clamp Technique
  • Glucose Tolerance Test
  • Humans
  • Insulin Resistance*
  • Lipodystrophy / congenital*
  • Lipodystrophy / metabolism
  • Lymphocytes / metabolism
  • Male
  • Receptor, Insulin / metabolism

Substances

  • Receptor, Insulin