Diabetes

Monogenic diabetes

Diabetes
Related glands
Pancreas
Related Hormones
Glucagon
Insulin

What is monogenic diabetes?

Monogenic diabetes is a rare form of diabetes. This chronic disease most often affects young people under 25 years of age.  

People with diabetes have elevated blood glucose (sugar) levels, which damage the body over time if left untreated. In most people with monogenic diabetes, the pancreas does not release enough insulin into the bloodstream.  

Two common forms of monogenic diabetes are:  

  • Maturity-onset diabetes of the young (MODY): this is the most common form that develops in children or teenagers. The disease can be mild or severe depending on the underlying genetic mutation. 
  • Neonatal diabetes: this is a rare condition occurring in the first 6 months of life. It can be permanent (life-long) or transient. 

What causes monogenic diabetes?

Monogenic diabetes is caused by mutations in a single gene (= monogenic), unlike type 1 and 2 diabetes which are caused by changes in multiple genes (= polygenic) and other (lifestyle) factors. Mutations in several genes (at least nine) have been shown to cause MODY. 

In most cases, monogenic diabetes is inherited from one or both parents. Sometimes the mutation develops spontaneously. 

How is monogenic diabetes diagnosed?

A combination of tests and clinical factors helps to rule out type 1 or type 2 diabetes and identify MODY or neonatal diabetes. 

  • Blood tests 

Blood tests measure glucose levels. It is also possible to measure how much insulin the body is producing. They might also check for autoantibodies, which suggest type 1 diabetes. In type 1 diabetes, autoantibodies mistakenly attack the body’s own insulin producing cells, i.e. the beta-cells, in the pancreas.  

  • Clinical evaluation to detect a combination of factors suggestive of monogenic diabetes: 
    • Diagnosis in the first six months of life 
    • Family history of diabetes 
    • Specific conditions that can be linked to specific genetic mutations 
    • Not being obese 
    • Belonging to specific ethnic groups 
  • Genetic testing using a blood sample.  

What are the signs and symptoms of monogenic diabetes?

The signs and symptoms depend on the gene mutation that a person carries. Monogenic diabetes can also be asymptomatic, meaning without any symptoms.  

Signs include:  

  • Frequent urination 
  • Rapid breathing 
  • Thirst 
  • Dehydration 
  • Blurry vision 
  • Recurrent skin infections 
  • Recurrent yeast infections 

How is monogenic diabetes treated?

Treatment for the two common forms of monogenic diabetes are:  

  • Maturity-onset diabetes of the young (MODY): Treatment depends on the type of MODY and ranges from diet and exercise to treatment with medicines, such as insulin or the diabetes medicine sulfonylurea to stimulate insulin production. Patients may also need treatment for specific conditions such as kidney diseases. 
  • Neonatal diabetes: this is a rare condition occurring in the first six months of life. It can be permanent (life-long) or transient. Treatment depends on the cause. Some types can be treated with medicines, such as insulin or diabetes medicine to stimulate insulin production.  

Contact a specialist

This website is not intended to provide advice or a diagnosis. This website is only intended to provide information. Do you have questions? Talk to your doctor or contact a specialist