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...

ea0051oc7.3 | Oral Communications 7 | BSPED2017

Level of WFS1 protein expression correlates with clinical progression of optic atrophy in wolfram syndrome patients

Hu Kun , Astuti Dewi , Williams Denise , Dias Renuka , Barrett Timothy , Zatyka Malgorzata

Introduction: Wolfram Syndrome (DIDMOAD) is an autosomal recessive disease caused by mutations in WFS1 gene, resulting in childhood onset diabetes mellitus and optic atrophy. There have been limited functional assays for WFS1 genetic variants. We aimed to investigate WFS1 protein expression in patients and relate this to their genotype and phenotype.Methods: Nine patients from a regional paediatric centre consented to skin biopsies. Six patients had comp...