Abstract

Objective

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterised by early-onset diabetes and inherited in an autosomal dominant manner. MODY results from heterozygous mutations in genes important for β-cell development or function. Our study aimed to define the most common and rare types of MODY in our cases with genetically confirmed MODY diagnosis, to evaluate clinical and laboratory features and treatment regimens.

Methods

The epidemiological, auxological, laboratory data, genetic analysis results and treatment regimens of 44 patients diagnosed with MODY were retrospectively evaluated.

Results

Of the cases included, 27 (61.4%) were male and the mean age at diagnosis was 10.07 (1-16.8) years. There was a family history of diabetes in 42 (95.5%) cases. The distribution of gene variants was: 25 (55.8%) <em>GCK</em>, 4 (9.1%) <em>HNF1A</em>, 4 (9.1%) <em>CEL</em>, 2 (4.5%) <em>BLK</em>, 4 (9.1%) <em>ABCC8</em>, 2 (4.5%)<em> KLF11</em>, 1 (2.3%) <em>INS</em>, 1 (2.3%) <em>KCNJ11</em>, 1 (2.3%) <em>APPL1.</em> At presentation, 23 (52.3%) of the cases had incidental hyperglycemia, 14 (31.8%) had polyuria and polydipsia. Diabetic ketoacidosis was detected in 4 (9.1%) and ketonemia in 3 (6.8%). At least one of the diabetes autoantibodies (anti-GAD, anti-ICA, anti-IAA) was detected in 11 (25%) cases, of which 7 were islet antibodies, and 5 cases (11%) had two autoantibodies positive at the same time. In terms of treatment, 26 (59%) received diet and lifestyle changes only, 18 (41%) received oral antidiabetic agents and/or insulin, and 6 (13.6%) of them received both oral antidiabetic agents and insulin.

Conclusion

The most common type of MODY in our study was GCK-MODY. Although MODY is generally known as an autoantibody-negative type of diabetes, autoantibody positivity was detected in 11 of 44 cases (25%) in our study.