Endocrine Abstracts

European Journal of Endocrinology Maturity Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes, where a genetic diagnosis can guide personalised treatment. However, accurate diagnosis depends on testing the right genes. This talk highlights the need to refine gene panels by including genes with strong evidence for MODY and removing those with insufficient support. This ensures more patients receive a correct diagnosis while avoiding misdiagnosis and inappropriate treatment. Optimising the cost-benefit of genetic testing also requires careful patient selection. The talk discusses clinical and familial criteria that increase the likelihood of identifying a monogenic cause of diabetes. Additionally, reduced penetrance—where individuals with pathogenic variants do not develop diabetes—is increasingly recognised in MODY and other monogenic disorders. This has important implications for interpreting genetic results, particularly in unaffected individuals. Emerging evidence suggests that polygenic risk may influence penetrance, challenging the traditional view of MODY as a purely monogenic disease. This talk explores recent findings on the interplay between monogenic and polygenic factors, shedding light on the genetic complexity of MODY. These insights have significant implications for diagnosis, management, and genetic counselling, paving the way for more precise and effective care for patients with MODY and other forms of diabetes.