Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation

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Mutations in the INSR gene result in rare inherited syndromes causing insulin resistance, such as leprechaunism (Donohue syndrome), Rabson-Mendenhall syndrome and insulin resistance type A.Leprechaunism is an autosomal recessive disorder associated with extreme insulin resistance that leads to hyperinsulinemia, impaired glucose homeostasis, fasting hypoglycemia and 3 piece horse wall art postprandial hyperglycemia.Impaired insulin action causes prenatal and postnatal growth retardation.Lipoatrophy, dysmorphic facies, hypertrichosis, macrogenitosomia and hypertrophy of internal organs are also present.

A male infant with congenital insulin resistance was born at term after a normal pregnancy with a weight of 1905 g (G; p.Thr107Arg homozygous missense mutation was found life extension blueberry extract in exon 2.