Abstract
Precision medicine, which optimizes diagnosis and treatment of diseases according to individualized characteristics, is becoming a reality in the field of diabetes, especially for monogenic diabetes. Maturityonset diabetes of the young (MODY) is a type of monogenic diabetes characterized by early onset, relative non-obesity, non-insulin dependence, and autosomal dominant inheritance. With the trend toward precision medicine and improvement in genetic testing, there have been advances in the classification, diagnosis, and treatment of MODY. MODY accounts for about 1% of diabetes in Korea, with GCK (glucokinase)-MODY, HNF1α (hepatocyte nuclear factor-1 alpha)-MODY, and HNF4α (hepatocyte nuclear factor-4 alpha)-MODY being most common. In the diagnosis of MODY, applying guidelines for interpretation of variant pathogenicity is important. For the treatment of MODY, individualized treatment strategies according to the causative gene of MODY should be applied when available. Still, the majority of MODY is misdiagnosed and more genetic testing is required in Korea. We review updates regarding the classification, diagnosis, and treatment of MODY.
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