Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep663 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024

Exploring the Genetic Landscape of Obesity: A Family Report of a Genetic Variant of BBS10 Gene

Augusto Silva Leandro , Varela Cunha Goncalo , Pina Rui , Barbosa Benilde , Pereira de Moura Jose , Santos Lelita

Introduction: Bardet-Biedl Syndrome is a rare autosomal recessive disease characterized by defects in multiple organ systems, presenting with diverse clinical manifestations such as retinopathy, polydactyly, obesity, intellectual developmental disorders, hypogonadism, renal dysfunction, among others.Clinical Case 1: 49-years-old female, case index, followed multidisciplinary since the age of three due to progressive night blindness from generalized retin...