Endocrine Abstracts

Introduction: Mitochondrial diabetes represents about 1% of diabetes but still very often misunderstood. The most frequent mutation is 3243A >G of the mtDNA, which is responsible for the maternally inherited diabetes and deafness syndrome (MIDD). We report an observation of a patient with strong suspicion of mitochondrial diabetes.

Case presentation: 43-year-old female patient, with diabetes for 5 years on an Insulin Therapy.Anamnesis:&hypen; Diabetes discovered at the Age of 38 years by an acid ketosis decompensation.‐ Strong heredity of diabetes: grand-mother, two uncles, two aunts, tree cousins, all on the mother’s side.‐ Hypoacusis in an uncle and two sisters on the mother’s side.‐ Blindness in grandmother and diabetic retinopathy in mother‐ Diabetic nephropathy in aunt on the mother’s side.Clinical examination is without particularity with BMI at 37.86 kg/m². Diabetes typing immunological test is negative

Discussion: Various abnormalities (mutations or deletions) in mtDNA are thus responsible for multi-organ syndromes that include diabetes among other abnormalities. Maternally Inherited Diabetes and Deafness (MIDD) is the most common form of mitochondrial diabetes. The 3243A >G mutation affects the tertiary structure of tRNA. The consequence is a cellular energetic deficit that mainly manifests in very active metabolically organs such as the endocrine pancreas. Mitochondrial diabetes should be suspected in view of the young age of onset of diabetes, maternal transmission, and association with other extra-pancreatic disorders (neurosensory deafness, reticular macular dystrophy, neurological and muscular disorders, cardiomyopathy). The purpose of searching for the mutation is to confirm the clinical diagnostic, to deduce the risk of maternal transmission and to propose a genetic diagnostic to the relatives.

Conclusion: Knowing mitochondrial diabetes is essential for early diagnosis, systematic screening for multi-organ damage, specific and multidisciplinary management, and to offer genetic counseling.

Bibliography: 1. Ming Li Yee, Rosemary Wong1. Mitochondrial disease: an uncommon but important cause of diabetes mellitus. 18-0091; September 2018.2. Mengge Yang, The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients. November 2021 | Volume 12 | Article 728043.3. T. Measa, Mitochondrial diabètes : Clinical features, diagnosis and management. La Revue de médecine interne 31 (2010) 216–221.4. P.-J. Guillausseau, Diabètes mitochondriaux. 10-366-D-25 EMC.