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...