Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.

Abstract

Insulin-like growth factor I (IGF-I) circulates predominantly as a 150-kD ternary complex that includes the ligand itself, IGF-binding protein 3, and an acid-labile subunit that stabilizes the complex. This report describes a 17-year-old boy with delayed onset and progression of puberty and yet minimal slowing of his linear growth. The boy was found to have an inactivating mutation of the IGF acid-labile subunit (IGFALS) gene.