[Leprechaunism caused by mutations in the insulin receptor gene].

Abstract excerpt

Leprechaunism represents the most severe form of insulin resistance syndrome, manifesting abnormal glucose metabolism and intrauterine, postnatal growth retardation. Mutations in both alleles of the insulin receptor gene have been identified. Recombinant human IGF-I treatment could prevent postnatal growth retardation and normalize glucose metabolism, however there are few reports of long-term treatment with...

Topics

• Child
• Female
• Humans
• Insulin Resistance
• Insulin-Like Growth Factor I
• Mutation
• Receptor, Insulin