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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Free Communications


hrp0089fc4.1 | GH & IGFs | ESPE2018

Monogenic and Digenic Gene Mutations are Present in Children with Idiopathic Short Stature (ISS)

Sanguineti Nora Maria , Ramirez Laura , Keselman Ana Claudia , Scaglia Paula Alejandra , Ropelato Maria Gabriela , Ballerini Maria Gabriela , Karabatas Liliana , Domene Sabina , Martucci Lucia , Braslavsky Debora , Landi Estefania , Cassinelli Hamilton , Casali Barbara , Rey Graciela Del , Pennisi Patricia , Jasper Hector , Vazquez Martin , Rey Rodolfo , Domene Horacio , Gutierrez Mariana , Bergada Ignacio

Background: Several genetic defects (GHR, SHOX, GHSR, NPR2, IGFALS) have been reported in children classified as ISS. ISS children are GH sufficient and about one third of them show low IGF-I levels, suggesting some degree of GH insensitivity.Objective: To explore potential genetic defects in ISS children suspicious of GH insensitivity, selected by low IGF-I levels and low response to IGF generation test.<...

hrp0089fc4.2 | GH &amp; IGFs | ESPE2018

Effects of IGF-1R Nuclear Localization in Glioblastoma Cells

Martin Ayelen , Clement Florencia , Venara Marcela , Bergada Ignacio , Gutierrez Mariana , Pennisi Patricia

Background: CNS tumors are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, we have shown that in paediatric gliomas, IGF-1R nuclear localization was significantly associated with both high grade tumours and increased risk of death, suggesting that nuclear IGF-1R localization may contribute to an aggressive behaviour of these tumours.<p class="...

hrp0089fc4.3 | GH &amp; IGFs | ESPE2018

The Reduction in Longitudinal Growth Induced By PAPP-A2 Deficiency is Associated with Reduced Body Weight, Increased Energy Expenditure and Behavior Modification

Suarez Juan , Rivera Patricia , Vargas Antonio , Rubio Leticia , de Fonseca Fernando Rodriguez , Chowen Julie , Argente Jesus

Background: Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability, affecting postnatal growth. We have recently reported the first mutations in human PAPP-A2 causing short stature and changes in bone size and mineral density. However, the IGF system is involved in diverse physiological functions and to date it is unknown how mutations in PAPP-A2, which significantly reduce f...

hrp0089fc4.4 | GH &amp; IGFs | ESPE2018

A Cross-Sectional Study of IGF-I Bioavailability Through Childhood and Associations with PAPP-A2, STC2 and Anthropometric Data

Fujimoto Masanobu , Khoury Jane , Andrew Melissa , Hwa Vivian , Dauber Andrew

Background: Insulin-like growth factor I (IGF-I) is one of the important hormonal mediators of human growth. Circulating IGF-I exists in a ternary complex bound to the acid-labile subunit (ALS) and one of its six binding proteins (BPs). IGF-I bound to ALS and BPs needs to be liberated by either Pregnancy Associated Plasma Protease A (PAPP-A) or A2 (PAPP-A2) to reach its receptor. Stanniocalcin 2 (STC2) is a potent inhibitor of both PAPP-A and PAPP-A2. Genome-wide association s...

hrp0089fc4.5 | GH &amp; IGFs | ESPE2018

Prediction of Adult Height by Artificial Intelligence (AI) through Machine Learning (ML) from Early Height Data

Shmoish Michael , German Alina , Devir Nurit , Hecht Anna , Butler Gary , Niklasson Aimon , Albertsson-Wikland Kerstin , Hochberg Ze'ev

Context: Growth analyses have traditionally been done by either non-structural descriptive statistics or by fitting models. While we usually describe height and weight separately, we assume reciprocity of weight and height on each other. We utilize ML to predict ages 7–18 y height based on height and weight data up to age 6y.Methods: After pre-processing the height and weight, primary and secondary features (height SDS, BMI, growth velocity) of 1596...

hrp0089fc4.6 | GH &amp; IGFs | ESPE2018

Absorption and Excretion of Somapacitan, a Long-Acting Growth Hormone (GH) Derivative

Rasmussen Michael Hojby , Damholt Birgitte Bentz , Helleberg Hans , Bjelke Mads , Suresh Swapna , Juul Rasmus Vestergaard , Hollensen Christian

Background: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative in clinical development for once-weekly administration in patients with GH deficiency (GHD). Clinical data in healthy subjects, and adults and children with GHD showed that once-weekly somapacitan injections were well tolerated with no clinically significant safety or local tolerability issues. A sustained dose-dependent IGF-I response supports a once-weekly treatment regimen.<p class="a...