hrp0092p3-83 | Diabetes and Insulin | ESPE2019

Diabetes Mellitus in a 16-Year-Old Boy Developing Multiple Neuro-Endocrine Dysfunctions in the Course: Is it Type 1 Diabetes or Wolfram Syndrome, or Both?

Santi Maristella , Emma Flück Christa , Böttcher Claudia

Introduction: Autosomal recessive mutations in the Wolfram syndrome type 1 gene are responsible for the classical Wolfram syndrome (OMIM_ 222300), also known by the acronym "DIDMOAD" (diabetes insipidus, diabetes mellitus (DM), optic atrophy and deafness). The gene encodes wolframin, a membrane glycoprotein, which helps to regulate the calcium homeostasis in the endoplasmic reticulum of many different tissues, including the pancreatic...