Akademik Veri Yönetim Sistemi
Journal of clinical research in pediatric endocrinology, cilt.16, sa.3, ss.297-305, 2024 (SCI-Expanded)
Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data,
and results of genetic analysis were evaluated.
Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1
years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The
remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n= 3) and KJNC11 (n=1). Of the cases,
197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while
30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody
was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of
therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%)
insulin and oral anti-diabetic treatment.
Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A
with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of
patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.