Endocrine Abstracts

JOINT614

Introduction: Maturity-Onset Diabetes of the Young (MODY) is characterized by diabetes in two or more generations of a family, typically affecting individuals under the age of 25, with a normal body weight and no insulin resistance. The main mechanism underlying MODY is a defect in insulin secretion. Identifying the specific MODY type is essential for patient management and treatment. This study aimed to assess the demographic and biochemical features of patients who underwent MODY genetic analysis, identify the most common MODY mutations, and explore associated clinical characteristics.

Materials and Methods: A retrospective analysis was conducted on 162 patients who underwent MODY genetic testing between 2022 and 2024. Data from 129 patients, including demographic, biochemical, and genetic information, were analyzed to determine MODY types and mutations.

Results: The average age of the 129 patients included in the study was 34. 06±9. 45 years. Of the patients, 66 (51. 2%) were female. The average body mass index (BMI) was 29. 26±7. 01 kg/m², and the mean duration of diabetes was 5. 83±7. 46 years. Diabetic complications included retinopathy (7. 8%), nephropathy (7%), and neuropathy (9. 3%). Treatment regimens varied: 58. 1% were on metformin, 4. 7% on GLP-1 analogues, 14. 7% on gliclazide, 18. 6% on SGLT2 inhibitors, 21. 7% on DPP-4 inhibitors, and 52. 7% on insulin. The mean C-peptide level was 2. 86±1. 70 ng/ml. A family history of diabetes was noted in 79. 1% of patients. At admission, mean HbA1c was 8. 93±3. 81%, with fasting plasma glucose at 213. 7±88. 5 mg/dL, creatinine at 0. 74±0. 18 mg/dL, and triglycerides at 247. 7±232. 3 mg/dL. The control HbA1c was 4. 36±4. 03%. MODY was diagnosed in 34. 1% of patients, with additional diagnoses of hyperinsulinemic hypoglycemia (5 patients) and Wolfram syndrome (1 patient). Among the MODY patients, 11 (25%) were diagnosed with type 12, 7 (15. 9%) with type 3, 7 (15. 9%) with type 8, 6 (13. 6%) with type 2, 3 (6. 8%) with type 1, 2 (4. 5%) with type 7, 2 (4. 5%) with type 10, 2 (4. 5%) with type 11, 1 with type 6, 1 with type 9, 1 with type 13, and 1 with type 14. The most frequent mutations were found in the ABCC8, HNF1A, CEL, GCK, INS, and HNF4A genes.

Conclusion: Selecting appropriate patients for MODY genetic testing is crucial for avoiding unnecessary tests and ensuring effective diabetes management. Given ethnic differences in MODY types, large-scale national studies could contribute significantly to understanding its genetic and clinical variability.