Clinical and Biochemical Response to rhGH Treatment in Children with Heterozygous Variants in the IGFALS Gene.

KESELMAN, A.; SCAGLIA, P.A.; BRASLAVSKY, D.; KARABATAS, L.; BALLERINI, M.G.; BERGADÁ, I; CASSINELLI, H.; DOMENE, H.; JASPER, H.

washington

Congreso; 10th International Meeting of Pediatric Endocrinology; 2017

Acid-labile subunit (ALS) is crucial to stabilize IGF-I in circulating ternary complexes. Complete ALS deficiency is characterized by short stature, severe reduction of serum IGF-I and IGFBP-3 levels and poor response to rhGH treatment. Less information is available on the response to rhGH treatment in children heterozygous carriers for IGFALS gene variants.