Diagnosis and Clinical Management of Monogenic Diabetes

Monogenic forms of diabetes are responsible for 1-3% of all young-onset diabetes. The multiple genes involved can cause one or both of the main phenotypes- congenital (neonatal) diabetes or MODY (maturity-onset diabetes of the young). The timely and accurate genetic diagnosis of monogenic diabetes provides an opportunity to target therapy to the underlying gene cause, refine management, and identify affected and at-risk relatives. As there is clinical overlap of monogenic diabetes with type 1 and type 2 diabetes, presenting clinical and laboratory features warrant careful attention to aid in diabetes classification and to identify those individuals who warrant genetic testing. These include those negative for islet cell autoantibodies with persistent c-peptide, suggesting a diagnosis other than type 1 diabetes. While obesity does not preclude monogenic diabetes, certainly individuals lacking obesity and other features of metabolic disease should be referred for diagnostic genetic testing. Understanding who and how to refer for genetic testing and how to interpret test results is key to precision medicine in diabetes. The most common forms of monogenic diabetes have specific therapies and management strategies that can optimize glycemic control and minimize complications resulting in improved health outcomes for affected individuals. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG .