[Donohue's syndrome (Leprechaunism)].
The syndrome of leprechaunism is characterized by the elfin-like face, hirsutism, acanthosis nigricans, absence of subcutaneous fat, and intrauterine and neonatal growth retardation. Most of the cases have severe insulin resistance with the mutation of the insulin receptor gene. In some cases, patient had two different mutations of the insulin receptor gene, and showed extremely severe insulin resistance. However, the genetic abnormalities responsible for the patient's phenotype, other than the insulin resistance, have not been found. Further study to define the additional genetic defects will be necessary to understand the abnormalities of this disorder.
Imamura
T
T
First Department of Medicine, Toyama Medical and Pharmaceutical University.
Kobayashi
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D000052:Acanthosis Nigricans / Q000235:genetics; D003920:Diabetes Mellitus / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics; D006628:Hirsutism / Q000235:genetics*; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D009154:Mutation; D011972:Receptor, Insulin / Q000235:genetics*; D013577:Syndrome
D011972:Receptor, Insulin