CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Acid Labile Subunit Heterozygous non-synonymous IGFALS allelic variants associated with diminished levels of all three IGF-I, IGFBP-3 and ALS are found in non-familial (NF) but not in familial (F) idiopathic short stature (ISS) children
Autor/es:
ALICIA MARTÍNEZ; PAULA A, SCAGLIA; ANA C. KESELMAN; MARIA GABRIELA ROPELATO; MARIA GABRIELA BALLERINI; SONIA V. BENGOLEA; VIVIANA PIPMAN; RODOLFO A. REY; JUAN J HEINRICH; HÉCTOR G. JASPER; HORACIO M. DOMENÉ
Lugar:
Glasgow
Reunión:
Congreso; 50th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE); 2011
Institución organizadora:
European Society for Paediatric Endocrinology (ESPE)
Resumen:
Background: Idiopathic short stature (ISS) is essentially a diagnosis of exclusion,probably including several as yet unrecognized conditions. Previousstudies have shown that heterozygous carriers (HC) for non-synonymous IGFALSallelic variants (ns-AV) are frequent in ISS children.Objective and hypotheses: In this study we compared auxological and biochemicaldata in ISS children classified as familial (F) and non-familial (NF)and according to the level of IGF-I aiming to: 1) determine differences inheight (H-SDS), target adjusted height (TAH-SDS), height gain during follow-up (ΔH-SDS=Last prepubertal H-SDS - H-SDS at admission) and levelsof components of the IGF system; 2) look for the most likely candidates forcarriers of IGFALS allelic variants.Methods: Auxological data were collected in 68 ISS prepubertal children.Serum levels of IGF-I (RIA), IGFBP-3 (IRMA), and ALS (RIA) were determinedand the IGFALS gene was sequenced. ISS children were classified as Fand NF, using -1.6 as TAH-SDS cut-off, or alternatively as having either lowor normal IGF-I levels (<-2.0 SDS). Statistical analysis: paired or unpaired Ttest, Mann Whitney and Chi square test were used.Results: At admission, NF were significantly shorter than F children, butlevels of IGF-I, IGFBP-3 and ALS were not significantly different. Whenclassified according to IGF-I level, those with low IGF-I had reduced levelsof IGFBP-3 and ALS but no differences in H-SDS or TAH-SDS. Data areexpressed as mean±SD.Follow up could be evaluated in 42/68 ISS children (21 F, 21 NF). NF childrenwere shorter than F at admission and showed a higher growth gain duringfollow up. IGFALS ns-AV were present in 6/34 NF vs 2/34 F (p NS), but iflow IGF-I and IGFBP-3 were also considered, IGFALS ns-AV were presentin 5/34 NF and 0/34 F (p=0.02). Same results were obtained if low ALS wasadded.Conclusions: These findings suggest that the NF subgroup of ISS childrenwith reduced levels of IGF-I and IGFBP-3, would be the most likely candidatefor genotyping the IGFALS gene searching for ns-AV.