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We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of  insulin-like growth factor 2 (IGF2) , as reported in Beckwith-Wiedemann syndrome, and a 15q terminal deletion, including the  type 1 IGF receptor gene  ( IGF1R ), resulting in haploinsufficiency for this gene. The patient was born with measurements appropriate for her gestational age but experienced growth retardation in early childhood, allowing a better comprehension of the IGF system in the pathophysiology of growth. It is possible that IGF-II plays a key role in fetal growth, independently of IGF1R signaling, and that its role is less important in post-natal growth, leaving IGF-I and growth hormone as the main actors.

frontiers in endocrinology

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion