title: Familial type C syndrome of insulin resistance and short stature with possible autosomal dominant transmission.
abstract: We describe a 17-yr-old girl with insulin resistant diabetes, acanthosis nigricans, hirsutism and short stature. At the age of 14 she was found to have glycosuria and diagnosed as diabetes mellitus. No endocrinological abnormality except transient amenorrhea and exaggerated LH response to LHRH was found. Insulin resistance was demonstrated by fasting hyperinsulinemia, insulin tolerance test and euglycemic glucose clamp test, and large doses of insulin with CSII were not effective in controlling blood glucose. Insulin binding to erythrocytes was normal, suggesting a postbinding defect. The same phenotype of insulin resistant diabetes and short stature was found in her mother who was diagnosed as diabetes mellitus at the age of 31 and died of diabetic nephropathy at the age of 41. Her maternal grandfather and uncle were reportedly affected with the same phenotype. Her father had impaired glucose tolerance, but no hyperinsulinemia. Two sisters had essentially normal glucose tolerance. Insulin binding to erythrocytes of her father and mother was also in the normal range. These results suggest that the present case may be a rare syndrome present together with type C syndrome of insulin resistance, and with short stature which was inherited autosomal dominantly.
authors.affiliation: Department of Pediatrics, Shimoshizu National Hospital and Sanatorium, Chiba, Japan.
authors.forename: F
authors.initials: F
authors.lastname: Nakamura
authors.forename: M
authors.initials: M
authors.lastname: Taira
authors.forename: N
authors.initials: N
authors.lastname: Hashimoto
authors.forename: H
authors.initials: H
authors.lastname: Makino
authors.forename: N
authors.initials: N
authors.lastname: Sasaki
mesh_terms: D000052:Acanthosis Nigricans / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D001827:Body Height; D003920:Diabetes Mellitus / Q000235:genetics* / Q000503:physiopathology; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005799:Genes, Dominant; D005951:Glucose Tolerance Test; D006628:Hirsutism; D006728:Hormones / Q000032:analysis; D006801:Humans; D007328:Insulin / Q000378:metabolism; D007333:Insulin Resistance / Q000235:genetics*; D011972:Receptor, Insulin / Q000032:analysis; D013577:Syndrome
chemical_list: D006728:Hormones; D007328:Insulin; D011972:Receptor, Insulin