hrp0092p1-83 | GH and IGFs | ESPE2019

Identification of Novel Recessive IGFALS Mutations and INSR Variant in an Obese Korean Boy

Kim Yoo-Mi , Lim Han Hyuk , Kim Seon Young

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...