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: The Glucagon-like Peptide(GLP1)-analogue liraglutide is the first drug approved for the treatment of obesity in adolescents in Europe. While clinically relevant effects of liraglutide treatment in adolescents with obesity had been shown in a phase III study, there are no reports about the use under real-life conditions in these patients. Our aim was to report the effect of treatment with liraglutide on body weight loss in a cohort of adolescents ...

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...

Introduction: The soluble leptin receptor (sLR) is the main binding protein of leptin in the serum. It reflects the amount of membrane-bound leptin receptors (LEPR) as the sLR is produced by proteolytic cleavage of the extracellular domain of membrane-bound LEPR. Low sLR but high leptin levels were measured in patients with severe obesity. In patients with monogenic obesity caused by biallelic LEPR variants, sLR levels were found to be either undetect...

Introduction: Monogenic defects in the leptin-melanocortin pathway result in hyperphagia and severe, early-onset obesity. Knowledge of the natural history of anthropometric parameters in patients with monogenic obesity is essential for diagnosis. However, reliable data on early childhood weight and height development in affected patients are lacking. This study aimed to evaluate the history of height, weight, and BMI development in early childhood in a Europea...