[Rabson-Mendenhall syndrome].
Rabson-Mendenhall syndrome was initially reported in 1956 by Rabson et al., who described three children with familial hyperplasia of pineal gland and diabetes mellitus. Characteristic features of this syndrome are low birthweight, thickened nails, hirsutism, acanthosis nigricans, dental precosity and dysplasia, polycystic ovary, abdominal proturbance, phallic enlargement and insulin resistant diabetes mellitus. Most patients die of ketoacidosis and intercurrent infection associating with extreme insulin resistance during mid-childhood. This syndrome appears to show autosomal recessive inheritance. Recent reports provide evidence that mutations in the insulin-receptor gene are, at least in pant, the cause of this syndrome, and that recombinant IGF-I (insulin-like growth factor-1) reduces hyperglycemia in patients of this syndrome.
Ando
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2nd Department of Internal Medicine, Kobe University School of Medicine.
D000052:Acanthosis Nigricans / Q000235:genetics / Q000378:metabolism; D003920:Diabetes Mellitus / Q000235:genetics / Q000378:metabolism*; D006628:Hirsutism / Q000235:genetics; D006801:Humans; D006965:Hyperplasia; D007333:Insulin Resistance / Q000235:genetics*; D009154:Mutation; D010870:Pineal Gland / Q000473:pathology; D011972:Receptor, Insulin / Q000235:genetics*; D013577:Syndrome
D011972:Receptor, Insulin