ESPE Abstracts

Introduction: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with hyperphagia and early-onset obesity. Increasing awareness of genetic testing could improve diagnosis and identification of patients who might benefit from novel precision therapies. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing prog...

Introduction: Genetic variants in the melanocortin-4 receptor (MC4R) pathway can lead to hyperphagia and early-onset obesity. Increasing awareness of genetic testing may aid in the diagnosis and identification of patients who could benefit from novel precision therapies. To enhance access to genetic testing for patients with suspected rare MC4R pathway diseases, the Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing program was established...

Introduction: Asprosin is a new discovered adipokine involved in the regulation of appetite, glucose, and energy homeostasis. The aim of our study was to evaluate asprosin serum levels in children and adults affected with Prader-Willi Syndrome (PWS), and to compare with hyperphagia questionnaire (HFQ), anthropometric and metabolic parameters.Methods: This cross-sectional study included 118 PWS subjects (88 children, mean...

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. No approved therapies exist for treating hyperphagia in patients with PWS. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The objective was to determine the efficacy of investigational DCCR on hyperphag...

Background and Purpose: Nutritional obesity is a significant health issue worldwide, and severe obesity can lead to obesity hypoventilation syndrome (OHS). However, previous studies have mainly focused on changes of mechanical respiratory function without in-depth study on damage of lung epithelial cells. This study investigates the molecular mechanism underlying obese hypoventilation.Methods: C57BL/6 mice were used to c...

Background and aims: Poly- and perfluoroalkyl substances (PFAS) are non-degradable, man-made-chemicals. PFAS are considered to be ‘Endocrine Disrupting Chemicals’ (EDCs), a group of chemicals which have been reported to interfere with endocrine processes and cause adverse effects on perinatal, neurodevelopmental, metabolic and reproductive outcomes. Especially when exposure occurs during susceptible periods of human development, such as early life....