Searchable abstracts of presentations at key conferences in endocrinology

ea0090p352 | Diabetes, Obesity, Metabolism and Nutrition | ECE2023

Obesity in pediatric patients with Bardet - Biedl Syndrome – diagnostic hint and therapeutic challenge

Nowak Maria , Ciołek Michał , Szczepańska Maria , Tomaszewska Agnieszka , Hildebrandt Friedhelm , Zachurzok Agnieszka

Introduction: Bardet-Biedl Syndrome (BBS) is an autosomal recessive disease and one of the most common causes of syndromic obesity. An excessive weight usually appears at an early age and affects almost 90% of patients. Mutations in BBS genes have been found to disrupt the function of the cilia, leading to disturbances of transduction satiety and hunger signals in hypothalamus and increased adipogenesis in the fat tissue.Methods: We present a case series...