Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with<i>IGF1</i>Mutation Demonstrates Its Critical Role in Growth and Brain Development

Abstract excerpt

CONTEXT: IGF-I is essential for fetal and postnatal development. Only three IGF1 defects leading to dramatic loss of binding to its type 1 receptor, IGF-1R, have been reported. PATIENT: We describe a very lean boy who has intrauterine growth restriction and progressive postnatal growth failure associated with normal hearing, microcephaly, and mild intellectual impairment. He had markedly reduced concentrations of...

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