ESPE Abstracts

Introduction: Congenital leptin deficiency can be treated with the human leptin analogon metreleptin as first reported in 1999. To date, the long-term effects (> 1 year) of metreleptin treatment on anthropometry and comorbidities have only been described in 8 patients with leptin deficiency. Here, we present the long-term effects of metreleptin substitution on weight and comorbidities in a patient with bioinactive leptin.Metho...

Introduction: Besides an excessive, early-childhood weight gain, hyperphagia is the key symptom in patients with monogenic obesity. However, the assessment of hyperphagia is still challenging. Here, we applied the hyperphagia questionnaire developed for patients with Prader-Willi-Syndrome (PWS) to assess the severity of hyperphagia in patients with monogenic obesity.Methods: Pediatric patients with biallelic pathogenic l...

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...