In-vitro Ternary Complex Formation (ivTCF) Enhanced by the Addition of IGFBP-3 (TCF+): A Useful Approach for the Assessment of the Function of Human IGFALS Gene Variants

DOMENÉ, HORACIO; SCAGLIA, PAULA; KARABATAS, LILIANA; KESELMAN, ANA; MARTINEZ, ALICIA; BRASLAVSKY, DÉBORA; BENGOLEA, SONIA; PIPMAN, VIVIANA; BERGADÁ, IGNACIO; JASPER, HÉCTOR

San Francisco

Congreso; 95ava Reuniòn Anual de la Endocrine Society; 2013

Endocrine Society

Background: Acid labile subunit (ALS) is crucial for ternary complex formation and therefore, to sustain circulating IGF-I levels. While complete ALS deficiency (ALS-D) is characterized by mild short stature and severe circulating IGF-I and IGFBP-3 deficiencies, first degree relatives, heterozygous carriers for IGFALS gene mutations (HC-FDR), present height, IGF-I and IGFBP-3 levels in between ALS-D and wild type (WT) relatives, suggestive of a gene-dosage effect. In addition, IGFALS genetic variants have been reported in a subgroup of idiopathic short stature (ISS) children.