hrp0094fc8.5 | Neuroendocrinology | ESPE2021

Bardet-Biedl Syndrome: A retrospective study of progression through puberty

Whitehead Jennifer , Schoeneberg Dillon , Sparks Kathryn , Forsythe Elizabeth , Beales Philip , Peters Catherine , Dastamani Antonia , Katugampola Harshini ,

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...

hrp0097p2-243 | Late Breaking | ESPE2023

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 the integrity of the primary cilium/basal body complex. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been r...