Current Environment: Production

What is monogenic diabetes?

Monogenic diabetes makes up approximately 2 to 6 percent of pediatric diabetes cases. Unlike type 1 (85 to 90 percent of pediatric diabetes) and type 2 (5 to 10 percent of pediatric diabetes), which are caused by a lot of small changes throughout the genome, monogenic diabetes occurs because of a change in one single gene. The number of recognized single-gene causes for diabetes is growing.

Monogenic Diabetes | Symptoms & Causes

What are the symptoms of monogenic diabetes in children?

Individuals with monogenic diabetes may have a variety of symptoms. Most forms will have symptoms similar to type 1 diabetes or type 2 diabetes, such as: 

  • Frequent urination
  • Feeling very thirsty or hungry, even after meals
  • Blurred vision
  • Fatigue
  • Numbness or tingling in hands or feet

However, in some cases, young people with monogenic diabetes have no symptoms and are incidentally found to have high blood glucose levels.

Monogenic Diabetes | Diagnosis & Treatments

How is monogenic diabetes diagnosed?

Genetic testing is required to diagnose monogenic diabetes. Genetic testing can be performed after obtaining a buccal (cheek) swab. This swab will then be sent to the lab, where they will test for genetic causes of diabetes.

How we approach monogenic diabetes at Boston Children’s Hospital

We take an individualized approach to each patient. For individuals that may have monogenic diabetes, we will pursue genetic testing. Once testing is complete and we have determined a specific diagnosis, we will deliver a care plan and treatment recommendations. Some patients with monogenic diabetes can take an oral medication instead of insulin, and some may not require any medication at all. Part of every patient’s care is discussion and monitoring of future health implications. 

There are times when initial genetic testing does not identify a genetic cause for diabetes. In this situation, we will discuss if additional testing is warranted, and we can provide resources to research studies, if interested.

Monogenic Diabetes | Programs & Services