Maturity onset diabetes of the young (MODY) is a form of diabetes caused by a mutation in a single gene (monogenic) that leads to elevated blood glucose levels. It accounts for 2-4% of all diabetes cases, and is a genetic disease. Diagnosis of monogenic diabetes is important, as treatment varies depending on the affected gene. Patients with specific genetic alterations may respond well to specific oral medications or not need therapy at all.
Risk Factors for MODY
Patients with three or more of the following characteristics may be at risk of having MODY. These include:
- Diagnosis of diabetes under the age of 25
- Normal weight or overweight at the time of diagnosis (Body Mass Index [BMI] less than 30)
- A child of a parent diagnosed with MODY has a 50% chance of also having MODY
- Lack of high blood pressure and high cholesterol
It is estimated up to 80% of people with MODY may be misclassified at type 1 or type 2 diabetes, therefore, a person with diabetes or prediabetes with one of the following characteristics may want to consider further evaluation:
- Diagnosed with diabetes under the age of 35 with a parent or child with diabetes
- Diagnosed with diabetes under the age of 1 (Neonatal Diabetes)
- Diagnosed with type 1 diabetes and has a parent or child with type 1 diabetes
- Diagnosed with type 2 diabetes under the age of 30
- Diagnosed with type 2 diabetes before the age of 45 with two or more first or second-degree relatives diagnosed with Type 2 diabetes before the age of 50.
- Diagnosed with gestational diabetes but has persistent elevated blood glucose after delivery
- Family member with monogenic diabetes
Symptoms and Diagnosis of MODY
Like other forms of diabetes, people with MODY may or may not have symptoms of high blood glucose. Some symptoms of high blood glucose are observed as:
- High blood sugar levels (hyperglycemia)
- Fatigue
- Blurred vision
- Frequent urination
- Constant feelings of hunger or thirst
- Unintentional weight loss
Diagnosing diabetes usually begins with your primary care physician, who will talk to you about your symptoms, family history and current medications. They will then request blood tests to see your current blood sugar levels. Using the results of this test, as well as provided information about family history, your doctor can begin to diagnose your condition.
At NorthShore, we offer further evaluation for patients with a potential MODY diagnosis at the Center for Personalized Medicine Diabetes Consultation Clinic. At this consultation, we will obtain a thorough personal and family history, and take a blood test. After this evaluation, if a person appears to be at high-risk for MODY, we will help facilitate genetic testing in order to diagnose the condition. If a specific gene alteration is present in a patient, your care team will then select the best therapy options for your condition.
Treatment Options for MODY
Treating MODY involves an extensive collaboration between your primary care physician and endocrinologist, as well as personalized medicine specialists. After identifying the specific genetic mutation through genetic sequencing, we may be able to provide a personalized treatment plan specific to the genetic alteration identified. People with certain MODY mutation genes may be able to successfully control their condition with oral medications rather than insulin injections. There are other mutations which often require no treatment at all, except during pregnancy. You will also receive nutritional guidance and access to the latest diabetes technology, such as insulin pumps and glucose meters, from our diabetes educators.
MODY Research
NorthShore’s researchers are also studying MODY in a clinical research study called FIND MODY. They are working to identify patients with diabetes who are at high-risk of having MODY, and provide them with additional evaluations and genetic testing. Our investigators plan to use their findings as a basis for creating more accurate diagnostic measures and treatment options for our patients.
Our research team also offers ways for patients to get involved in diabetes research. You may enroll in the Diabetes Research Registry, which is open to anyone with diabetes. The registry provides the latest news and reports in diabetes care, as well as updates on new research studies you may be interested in participating in.
For More Information
For more information about MODY, please call 847.570.GENE or email diabetesresearch@northshore.org.