ea0095oc5.1 | Oral Communications 5 | BSPED2023
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 100,000160,000, 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...