-Synonymous IGFALS Allelic Variants (ns-Av), Associated with Diminished Levels of IGF-I, IGFBP-3 and ALS, are Found in Nonfamilial (NF) But Not in Familial (F) Idiopathic Short Stature (ISS) Children

A. MARTÍNEZ; PA. SCAGLIA; A. KESELMAN; MG. ROPELATO; MG. BALLERINI; SV. BENGOLEA; V. PIPMAN; R. REY; JJ. HEINRICH; H. JASPER; H. DOMENE

Cartagena

Congreso; XXII Reunión anual de la SLEP; 2011

Sociedad Latinoamericana de Endocrinología Pediátrica

Introduction: Low levels of IGF-I are found in about 30% of ISS children and some of them present heterozygous ns-AV-IGFALS allelic variants. Aim: Our aim was to identify potential carriers of ns-AV. Methods: Height (H-SDS), target adjusted height (TAHSDS), were collected in 68 ISS prepubertal children, classified as F or NF and according to IGF-I levels (normal or low). Serum levels of IGF-I, IGFBP-3 and ALS were determined and the IGFALS gene was sequenced. Results: NF were significantly shorter than F children, but their levels of IGF-I, IGFBP-3 and ALS were not different. Those presenting low IGF-I had reduced levels of IGFBP-3 and ALS, but did not differ in H-SDS or TAH-SDS. ns-AV-IGFALS were present in 6/34 NF vs. 2/34 F (p NS), but if low IGF-I and IGFBP-3 were also considered, IGFALS ns-AV were present in 5/34 NF and 0/34 F (p = 0.02). Conclusion: These findings suggest that the NF subgroup of ISS children with reduced levels of IGF-I and IGFBP-3, would be the most likely candidates for genotyping the IGFALS gene searching for ns-AV.