Searchable abstracts of presentations at key conferences in endocrinology

ea0077p197 | Metabolism, Obesity and Diabetes | SFEBES2021

Case report of a Patient With Maturity Onset Diabetes of the Young 6: a novel NEUROD1 mutation

Colosimo Santo , Baracco Bianca , Brodosi Lucia

Introduction: Maturity onset diabetes of the young (MODY) is a group of monogenic, autosomal, dominant diseases characterized by a single genetic mutation that results in beta-cells disfunction with consequent hyperglycemia. It Accounts for 1-5% of all cases of diabetes. At the moment, optimal treatment has not been established and it relies on the individual response. A mutation of NEUROD1 gene, a transcription factor expressed by pancreatic and nervous tissues, has been foun...