IMPE Abstracts

Introduction: Acid-labile subunit (ALS) forms ternary complexes with insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) being essential for normal circulating IGF-1 levels. The IGFALS gene encodes the ALS and loss-of-function variants in IGFALS cause ALS deficiency, which has a prevalence < 1/1.000.000. These patients generally present with moderate short stature, extraordinarily low serum levels of IGF-I and IGFBP-3 ...