Monogenic diabetes is a special type of diabetes caused by a mutation in a single gene, accounting for approximately 1%–5% of all diabetes cases. It is often misdiagnosed as type 1 or type 2 diabetes due to its atypical symptoms. Diagnosis relies on genetic testing. Some types can be precisely treated with specific medications (such as sulfonylureas), and early detection can significantly improve prognosis.
Monogenic diabetes has a clear genetic mechanism, directly caused by mutations in specific genes, such as the GCK gene (involved in blood glucose regulation) and the HNF1A gene (leading to defective insulin secretion). Most cases are inherited in an autosomal dominant pattern, with a history of the disease across multiple generations in the family.