Searchable abstracts of presentations at key conferences in endocrinology

ea0097028 | Section | BES2023

A diagnostic conundrum in Bardet-Biedl syndrome: when genetics precede clinical diagnosis

Roy Nele Van , Sylvester Heerwegh , Dashty Husein , Joke Ruys , Peter Coremans

Introduction: Bardet-Biedl syndrome (BBS) is an autosomal recessive, monogenic syndrome of obesity, with an estimated prevalence of 1:160.000. BBS is caused by mutations in one of the twenty-six genes that play a role in the function of primary cilia (1). Early-onset obesity, post-axial polydactyly, retinitis pigmentosa, renal or genitourinary abnormalities, learning disabilities and hypogonadism are considered primary features. Diabetes, speech deficit, heari...