ea0031p209 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2013
Mujahid Safa
, Huda Mohammed
, Forsythe Elizabeth
, Hazlehurst Jonathan
, Tomlinson Jeremy
, Beales Philip
, Carroll Paul
, McGowan Barbara
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...