Searchable abstracts of presentations at key conferences in endocrinology

ea0085oc7.3 | Oral Communications 7 | BSPED2022

Hypogonadism and pubertal disorders in wolfram syndrome

Newell Laura , Cunningham Olivia , Williams Denise , Barrett Timothy , Dias Renuka

Background: Wolfram Syndrome (WS) is a rare autosomal recessive disorder characterised by early-onset diabetes and optic atrophy as well as a variable spectrum of other endocrine and neurological conditions. It is caused by mutations in the WFS1 gene. Previous reports have documented a variable prevalence of hypogonadism (6.3% of the international EURO-WABB registry, 34% of a German cohort); however the only UK cohort reported was of 10 males, 7 of whom had primary gonadal atr...