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