Congenital generalized lipodystrophy with insulin-resistant diabetes

  title={Congenital generalized lipodystrophy with insulin-resistant diabetes},
  author={Soichi Kodama and Masato Kasuga and Atsushi Seki and Michindo Ninomiya and Takashi Sakurai and Yorihiko Morishita and Masafumi Matsuo and Tamotsu Matsuo},
  journal={European Journal of Pediatrics},
Hyperglycemia, glucose intolerance, hyperinsulinemia and resistance to exogenous insulin were found in a 10-year-old Japanese boy diagnosed as having congenital generalized lipodystrophy.Studies on insulin receptors of circulating mononuclear leucocytes indicated that insulin-resistant diabetes combined with congenital generalized lipodystrophy may be due to disturbance of insulin binding to membrane receptors. No insulin-binding antibody or antibody that impairs insulin-receptor binding was… Expand
9 Citations
Insulin Resistance in a Boy with Congenital Generalized Lipodystrophy
Results from euglycemic glucose clamp study showed decreases in both insulin sensitivity and responsiveness, which 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. Expand
Very low-density lipoprotein metabolism in an unusual case of lipoatrophic diabetes.
The studies demonstrate the independent benefits of caloric and dietary-fat restriction in the treatment of LD, and that fat restriction lowered plasma triglyceride by its effect on the VLDL-TG production rate. Expand
Lipodystrophy: lessons in lipid and energy metabolism
Understanding the pathophysiology of dyslipidemia in these rare disorders of lipodystrophies may offer insights into the normal role of adipocytes in maintaining metabolic homeostasis, and its disturbances in common forms of obesity. Expand
The molecular basis of genetic lipodystrophies.
Delineation of the human molecular genetic basis of two distinct forms of inherited lipodystrophy may have relevance for the common insulin resistance syndrome and for acquired lipody Strophy syndromes. Expand
Congenital Lipodystrophies and Dyslipidemias
Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy, and preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials. Expand
The New Insulins
The use of highly purified insulins for short courses of treatment is therefore mandatory, particularly in patients with infections, and should be used in all newly diagnosed insulin-requiring diabetics. Expand
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip congenital lipodystrophy is a very rare autosomal recessive disorder determining the triad of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features associated with insulin resistance resulting in clinically overt diabetes mellitus with onset during the second decade. Expand
Some aspects of the genetics and etiology of spontaneous diabetes mellitus
  • E. Pimentel
  • Biology, Medicine
  • Acta diabetologia latina
  • 2007
There is as yet no conclusive evidence concerning the possibility that exogenous and/or endogenous viruses may play a role in the etiology of human DM, but the possibility of congenital transmission of a predisposition to DM through the action of some unknown epigenetic mechanisms has been suggested. Expand


The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man.
In six patients with acanthosis nigricans variable degrees of glucose intolerance, hyperinsulinemia and marked resistance to exogenous insulin were found. Studies of insulin receptors on circulatingExpand
Effects of sulfonylurea therapy on insulin binding to mononuclear leukocytes of diabetic patients.
Mononuclear cells from nonobese, nonketotic, untreated adult diabetic patients with fasting hyperglycemia demonstrate a decreased ability to bind insulin due to decreased numbers of insulin receptors per cell; and treatment with an oral hypoglycemic agent is associated with a diminution in hyper glycemia and a return toward normal of insulin binding. Expand
Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy.
Altered insulin receptors may be responsible for the pronounced insulin resistance and the decreased synthesis of triglycerides in congenital generalized lipodystrophy. Expand
A possible role of circulating lipoprotein-triglycerides in the increase in concentration of free fatty acids and in insulin resistance in "total" lipodystrophy.
  • C. Naito, K. Togawa
  • Chemistry, Medicine
  • The Journal of clinical endocrinology and metabolism
  • 1974
It is suggested that circulatinglipoprotein triglyceride was hydrolyzed by lipoprotein lipase on capillary surfaces at the peripheral sites and the resultant free fatty acids entered the circulation instead of being taken up by ad... Expand
Effects of fasting and refeeding of insulin receptors and glucose metabolism in rat adipocytes.
Conclusions from these studies are that both disorders in coupling of insulin-receptor complexes to glucose transport systems and intracellular glucose metabolism play major roles in the insulin insensitivity of adipocyte from fasted rats, whereas, in adipocytes from refed Rats, intrace cellular glucose metabolism, rather than glucose transport, is mainly involved in restoring insulin sensitivity. Expand
An undiagnosed endocrinometabolic syndrome: report of 2 cases.
  • W. Berardinelli
  • Medicine
  • The Journal of clinical endocrinology and metabolism
  • 1954
2 cases of a syndrome which does not seem to fit into any of the known clinical pictures are observed, with an acromegaloid gigantism, hepatosplenomegaly, fatty infiltration of the liver, hyperlipemia, hyperproteinemia, and disturbed carbohydrate metabolism. Expand
Determinants of human adipose tissue lipoprotein lipase. Effect of diabetes and obesity on basal- and diet-induced activity.
Defects in insulin secretion, both in postabsorptive and postprandial states, are associated with low adipose tissue lipoprotein lipase and may lead to hypertriglyceridemia in diabetic man. Expand
Insulin receptors in human circulating cells and fibroblasts.
Insulins and insulin derivatives that varied in their potency to stimulate glucose oxidation in the fat cell and to inhibit binding of [(125)I]insulin to purified plasma membranes, varied in an analogous fashion in their ability to inhibit the binding of labeled insulin to human lymphocytes. Expand
A sensitive double antibody radioimmunoassay for Human Growth hormone (HGH): levels of serum HGH following rapid tolbutamide infusion
A double antibody radio-immunoassay for human growth hormone has good reproducibility and accuracy and in four patients after hypophysectomy, HGH concentrations disappeared almost completely, and in another patient no rise of the hormone was seen during an IV insulin tolerance test. Expand
Plasma insulin and glucagon responses to arginine in patients with thyroid dysfunction.
The impaired insulin response to l-arginine in the case of hyperthyroidism was significantly improved after thyroid function was normalized by treatment. Expand