hrp0095p2-98 | Fat, Metabolism and Obesity | ESPE2022

Effects of long-term metreleptin replacement therapy on weight and comorbidities in a patient with bioinactive leptin

Zorn Stefanie , von Schnurbein Julia , Kohlsdorf Katja , Brandt Stephanie , Wabitsch Martin

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...

hrp0094p2-195 | Fat, metabolism and obesity | ESPE2021

Assessment of Hyperphagia in Patients with Monogenic Obesity

Zorn Stefanie , von Schnurbein Julia , Schirmer Melanie , Kohlsdorf Katja , Brandt Stephanie , Wabitsch Martin ,

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...

hrp0097fc8.6 | Fat, metabolism and obesity 2 | ESPE2023

Liraglutide treatment in adolescents with extreme obesity - Effects on weight loss in the first 9 months under real-life conditions

Schirmer Melanie , Brandt Stephanie , Knupfer Magdalena , Zorn Stefanie , Weihrauch-Blüher Susann , Wabitsch Martin

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 ...

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...

hrp0097p1-59 | Fat, Metabolism and Obesity | ESPE2023

Diagnostic value of soluble LEPR levels in the serum of patients with disease-causing biallelic LEPR variants

Zorn Stefanie , Tews Daniel , von Schnurbein Julia , Flehmig Bertram , Pridzun Lutz , Wabitsch Martin , Malene IV , Chantana Yay , Khun Leang Chhun , Ban Manet , Tyla Martin , Ngee Lek

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...

hrp0097fc3.1 | Fat, metabolism and obesity 1 | ESPE2023

Early childhood height and weight development in children with monogenic obesity: A European multicenter cohort study

Zorn Stefanie , de Groot Corjan , Brandt Stephanie , von Schnurbein Julia , Abawi Ozair , Bounds Rebecca , Ruck Lisa , Guijoa Blanca , A. Martos-Moreno Gabriel , Nicaise Clarisse , Courbage Sophie , Dubern Béatrice , Poitou Christine , Clément Karine , Argente Jesús , Kühnen Peter , Farooqi Sadaf , Wabitsch Martin , van den Akker Erica

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...