hrp0089p1-p104 | Fat, Metabolism and Obesity P1 | ESPE2018

Chromosomal Deletions at Chromosome 16p11.2 Associated with Severe Early-Onset Obesity- 3 Additional Patients

Herrmann Gloria , Ehehalt Stefan , Borck Guntram , Wabitsch Martin , Schnurbein Julia von

Deletions at 16p11.2 have been reported to be associated with obesity, intellectual disability and various malformations. There are variations in phenotypes associated with deletions of different sizes in this region. Some deletions encompass the SH2B1 gene encoding an adaptor protein involved in leptin and insulin signalling which is believed to be causal for the early-onset obesity of these patients who in addition show a developmental delay (see patient 1). Deletio...

hrp0089p2-p141 | Fat, Metabolism and Obesity P2 | ESPE2018

Associations between Total Leptin, Bio-inactive Leptin, Soluble Leptin Receptor and Anthropometrics in Children with Severe Early-onset Obesity (SEOO) – the German-Polish Study (EOL-GPS)

Zachurzok Agnieszka , Malecka-Tendera Ewa , Petriczko Elzbieta , Mazur Artur , Pridzun Lutz , Flehmig Bertram , Schnurbein Julia von , Ranke Michael B. , Wabitsch Martin , Brandt Stephanie

Background: Severe early-onset obesity (SEOO) in children is more frequently observed in subjects with genetic disorders of which those of leptin pathway can be analyzed biochemically and genetically.Objectives: The aim of the study was to investigate anthropometrics and leptin parameters, specifically searching for bio-inactive leptin, in children with SEOO.Methods: Study cohort includes children ...

hrp0094p1-120 | Fat, Metabolism and Obesity B | ESPE2021

Monogenic obesity in children: focusing on SH2B1 deletion

Giannopoulou Eleni Z , Zorn Stefanie , Schirmer Melanie , Herrmann Gloria , Heger Sabine , Reinehr Thomas , Denzer Christian , Rabenstein Hannah , Schnurbein Julia von , Wabitsch Martin ,

Introduction: Monogenic obesity refers to a group of rare, early-onset forms of obesity and accounts for about 7% of patients with severe pediatric obesity. Recent reports demonstrate the emerging role of Src-homology-2 (SH2) B adaptor protein 1 (Sh2b1), an important component in the leptin-melanocortin pathway, as a key regulator of leptin and insulin signaling, with possible roles in the pathogenesis of obesity and diabetes. SH2B1 deletions are found to be a...