Abstract Context Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in
which previous reports have described obesity and a metabolic syndrome. Objective We
describe the endocrine and metabolic characteristics of a large BBS population compared
with matched control subjects. Design We performed a case-control study. Setting This study
was performed at a hospital clinic. Patients Study patients had a clinical or genetic diagnosis
of BBS. Main Outcome Measurements Our study determined the prevalence of a metabolic …

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 two national BBS clinics; anthropometric measurements and fasting blood …