Searchable abstracts of presentations at key conferences in endocrinology

ea0095p119 | Diabetes 4 | BSPED2023

A rare case of diabetes mellitus and congenital deafness in an 18 month old girl with Wolfram like syndrome

Kareem Nabeel Abdul , Modgil Gita , Bridges Sarah , Candler Toby

Background: Wolfram Syndrome (WFS) is a rare genetic progressive neurodegenerative disorder caused by mutation in the gene encoding Wolframin, a protein located in the endoplasmic reticulum. WFS has an estimated prevalence of 1 in 770 000.The hallmark features are Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, Deafness(DIDMOAD) and neurodegeneration. Classic WFS1 is inherited in an Autosomal Recessive manner whereas the Non-classic form is Autosomal Dom...