Endocrine Abstracts

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...

Introduction: Wolfram syndrome (WS) is an ultra-rare form of progressive neurodegeneration with diabetes mellitus and optic atrophy as the key clinical manifestations in childhood. Birmingham Children’s Hospital (BCH) is the UK lead centre for management of paediatric WS. In recent years, monitoring of glucose in diabetes management increasingly involves continuous glucose monitoring sensors (rtCGM) rather than capillary blood glucose meters (CBG). Using rtCGM in type 1 d...

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...

Background: Diagnostic stratification of patients with suspected primary aldosteronism (PA) is a multistep process reliant on tests that are not infallible. Only through prospective studies can diagnostic accuracy be appropriately assessed.Methods: The PROSALDO trial enrolled 819 patients between 2019 and 2023 to assess steroid profiles against routine tests for diagnostic stratification. A combination of these tests and outcome assessments, including me...