ESPE Abstracts

Introduction: The melanocortin-4 receptor (MC4R) pathway is critical for hunger regulation, energy balance, and weight regulation. In patients with Bardet–Biedl syndrome (BBS), a rare, genetically heterogeneous, and highly pleiotropic disease, the immotile primary cilia are dysfunctional, leading to MC4R pathway impairment. Patients suffer from symptoms including early vision loss, learning difficulties, and renal dysfunction, next to hyperphagia and ear...