How frequent are partial and complete acid-labile subunit deficiency (ACLSD) in children with idiopathic short stature (ISS)?

DOMENÉ, H.; SCAGLIA, P.A; KESELMAN, A.; KARABATAS, L.; MARTUCCI, L.; BALLERINI, M.G.; ROPELATO M.G.; MARTINEZ, A.; CASSINELLI, H.; DOMENÉ, S.; BRASLAVSKY, D.; GUTIERREZ, M; BENGOLEA, S.; PIPMAN V; HEINRICH JJ; BERGADÁ, I; REY, R; JASPER, H.

Washington

Congreso; 10th International Meeting of Pediatric Endocrinology; 2017

Idiopathic short stature (ISS) is a clinical condition defined as height 2 SD below the mean in children without evidence of systemic, endocrine, nutritional, or chromosomal abnormalities. ISS children have normal birth weight and are GH sufficient. Several molecular defects have already been characterized in a subgroup of ISS children, including GHR, GHSR, SHOX, NPR2, IGFALS genes among others. The aim of this study was to characterize the IGFALS gene in normal and ISS children, identify potential pathogenic variants and determine their impact on the IGF system and the frequency of partial and complete ACLSD.