title: Congenital lipodystrophy: An endocrine study in three siblings. I. Disorders of carbohydrate metabolism.
abstract: Three siblings with congenital lipodystrophy were studied extensively for endocrine abnormalities. A severe disturbance in carbohydrate metabolism was observed. Plasma concentrations of glucagon and insulin were markedly elevated both in the basal state and in response to provocative stimuli. In addition, marked resistance to exogenous insulin and a diabetic oral glucose tolerance test were demonstrated. Lipid metabolism, GH, and ACTH secretion were normal...
mesh_terms: D000293:Adolescent; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D000941:Antigens; D001120:Arginine; D001786:Blood Glucose / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D005260:Female; D005934:Glucagon / Q000378:metabolism; D005951:Glucose Tolerance Test; D013006:Growth Hormone / Q000378:metabolism; D006728:Hormones; D006801:Humans; D007223:Infant; D007328:Insulin / Q000378:metabolism; D007333:Insulin Resistance; D000078790:Insulin Secretion; D050356:Lipid Metabolism; D008060:Lipodystrophy / Q000151:congenital* / Q000235:genetics / Q000378:metabolism; D008297:Male; D014044:Tolbutamide
chemical_list: D000941:Antigens; D001786:Blood Glucose; D006728:Hormones; D007328:Insulin; D000324:Adrenocorticotropic Hormone; D013006:Growth Hormone; D005934:Glucagon; D001120:Arginine; D014044:Tolbutamide