Endocrine Abstracts

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 found to cause beta-cells dysfunction, inadequate insulin secretion, and hyperglycemia (MODY 6). A recent case report has documented for the first time a new missense mutation (p.Met114Leu c.340A> C) of the NEUROD1 gene that is pathogenetic for diabetes mellitus.

Case: We report the case of a 50 years-old man in treatment with basal-bolus insulin regimen and initial poor glycemic control. After thorough genetic testing, NEUROD1 mutation was found. Treatment adjustment aimed at optimal glycemic control allowed rapid analog withdrawn and initiation of gliclazide. Interestingly, our patient had an early onset dilated cardiomyopathy. No other data about cardiac diseases in patients with MODY 6 is available.

Discussion: Patients with family history of diabetes, normal BMI, early onset and no autoimmunity should be screened for known MODY mutation. Diagnostic criteria for MODY can overlap with other types of diabetes and most cases are still misdiagnosed as diabetes type 1 or 2.

Conclusions: Once MODY is diagnosed, treatment optimization should consider sulphonylureas and incretin based-antidiabetic drugs before insulin basal-bolus regimen is instituted.