Diabetes Services

Monogenic Diabetes

Monogenic diabetes, also called genetic diabetes, is a class of rare forms of diabetes that often require genetic testing for an accurate diagnosis. Whereas more common types of diabetes, such as type 1 and type 2 diabetes, are polygenic (meaning they result from changes or mutations to multiple genes), monogenic forms of diabetes are caused by mutations in a single gene.

In monogenic forms of diabetes, production of the hormone insulin in the pancreas is reduced. Insulin helps regulate the amount of glucose (sugar) in the blood; blood glucose, in turn, supplies the body’s cells with energy. Without insulin, blood glucose accumulates in the bloodstream instead of reaching the body’s cells. Over time, high blood sugar can damage the body’s tissues and organs, including the heart, kidneys, eyes and nerves.

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Two Main Types of Monogenic Diabetes

  1. Neonatal Diabetes Mellitus (NDM): occurs in newborns and infants
  2. Maturity-Onset Diabetes of the Young (MOD): occurs in adolescents and young adults and is more common than NDM

What Causes Monogenic Diabetes?

Changes or mutations in a single gene cause monogenic diabetes. Monogenic diabetes is often inherited from one parent in what’s called an “autosomal dominant” gene. However, sometimes the mutation or change happens spontaneously. In that case, the condition is not inherited.

Risk Factors for Monogenic Diabetes

Risk factors associated with the more common types of diabetes (obesity, high blood pressure, being age 45 or older, etc.), may not apply to people with monogenic diabetes.

Symptoms of Monogenic Diabetes

Symptoms of monogenic diabetes are similar to those of other types of diabetes and may include:

  • frequent urination
  • dehydration
  • thirst
  • recurrent skin infections
  • recurrent yeast infections
  • blurry vision
  • rapid breathing

Diagnosis of Monogenic Diabetes

Blood sugar tests and genetic testing are used to diagnose monogenic diabetes. Genetic testing is performed on blood or saliva samples. The DNA from the samples is examined for changes in the genes that cause monogenic diabetes.

Genetic testing is recommended if:

  • Diabetes is diagnosed within the first six months of age
  • Diabetes is diagnosed in children and young adults, especially individuals with a strong family history of diabetes, who do not display typical features of type 1 or type 2 diabetes (for example, having diabetes-related autoantibodies, obesity and other metabolic features)
  • A person exhibits a stable, mild fasting hyperglycemia, especially if they do not have obesity

Treatment of Monogenic Diabetes

Treatment of MOD depends on the specific genetic mutation that is the cause of the condition. Individuals who have certain forms of MOD and NDM can be treated with sulfonylureas, an oral diabetes medicine that helps the body release more insulin into the blood. Others may require insulin injections. Some people with MOD may not require medication and may be able to maintain optimal glycemia (blood sugar levels) through physical activity and diet.

University Hospitals Diabetes & Obesity Center: Expert Management of Diabetes & Related Disorders

Led by an experienced team of clinicians and scientists, the University Hospitals Diabetes & Obesity Center provides ongoing care, management, and education for diabetes, obesity and related conditions. Our talented team of compassionate specialists includes endocrinologists, diabetes care and education specialists, weight loss specialists, nurse practitioners and specialty pharmacists.

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Make An Appointment

To schedule a consult with a diabetes specialist, please call 216-286-8988.