Searchable abstracts of presentations at key conferences in endocrinology

ea0095oc5.1 | Oral Communications 5 | BSPED2023

Endocrine outcomes in bardet-biedl syndrome from a large single-centre paediatric multidisciplinary clinic

Varughese Rachel , Pujari Divya , Hatton Elizabeth , Dyakova Theodora , Sparks Kathryn , Flack Sarah , Forsythe Elizabeth , Beales Phil , Chesover Alexander

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...