Endocrine Abstracts

Background: Bardet Biedl syndrome (BBS) is a rare autosomal recessive disorder caused by ciliary dysfunction. It is characterised by rod cone dystrophy, polydactyly, renal dysfunction, cognitive impairment. Endocrine consequences are thought to include hypogonadism, obesity and polyuria. However little is known about the endocrine and metabolic abnormalities in adult patients.Methods: One hundred and fifty-four patients with BBS were identified through t...

Introduction: Bardet-Biedl Syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000–160,000, caused by mutations across >20 known genes encoding for proteins responsible for primary cilium/basal body complex integrity. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been reported; howe...

Background: In patients with Bardet-Biedl syndrome (BBS), signaling impairments in the melanocortin-4 receptor (MC4R) pathway lead to hyperphagia and severe obesity, which negatively impact quality of life (QOL). We evaluated the impact of setmelanotide, an MC4R agonist, on age-appropriate weight-related parameters, hunger, and QOL in a Phase 3 trial of patients with BBS to further characterize clinical benefit in this patient population.Methods: Patient...