Skip to main content
Public beta This website is in public beta – please give your feedback.
Primary Care

Presentation: Patient with neonatal diabetes

Neonatal diabetes affects around one in every 100,000 live births, and around 40% of cases have an underlying genetic cause. All diabetes patients who were diagnosed below the age of six months should be referred for genomic testing, regardless of their current age.

At a glance:

  • Neonatal diabetes is diagnosed in the first six months of life and affects around one in 100,000 live births.
  • Around 40% of patients with neonatal diabetes have a pathogenic variant in a potassium channel gene (KCNJ11 or ABCC8). Glycaemia can be greatly improved in these patients by transferring them from insulin to sulphonylurea treatment.
  • Pathogenic variants in KCNJ11 and ABCC8 can cause transient neonatal diabetes, permanent neonatal diabetes or developmental delay, epilepsy and neonatal diabetes (DEND) syndrome.
  • Alert! All diabetes patients who were diagnosed below the age of six months should be referred for genomic testing, regardless of their current age.

Example clinical scenario

A 28-year-old man mentions that he was diagnosed with diabetes as a baby. On further discussion, it becomes apparent that he was diagnosed at just six weeks of age. He has been treated with insulin since his diagnosis and his BMI is 24. He has no family history of diabetes.

Identifying those at risk of a genetic condition

  • The only criteria needed to refer a diabetes patient for genomic testing is diagnosis below six months of age, though non-diabetic features may also be noted – for example, low birth weight or the presence of learning difficulties.
  • To date, more than 20 different genetic causes of neonatal diabetes have been identified, all of which lead to different clinical subtypes of the disease. The majority of non-potassium channel neonatal diabetes subtypes are characterised by additional extra-pancreatic features.
  • KCNJ11 and ABCC8 neonatal diabetes follows an autosomal dominant inheritance pattern, meaning that children of an affected individual have a 50% chance of being affected themselves. For more information, see our dedicated monogenic diabetes resource.

What should you do next?

  • Refer the patient for molecular genomic testing. If testing confirms a diagnosis of KCNJ11 or ABCC8 neonatal diabetes, a transfer from insulin to sulphonylureas treatment should be attempted with support from the monogenic diabetes and molecular genetics teams at the Royal Devon University Healthcare NHS Foundation Trust, using the guidelines available.
  • Alert the above teams to current pregnancies in patients with KCNJ11 or ABCC8 neonatal diabetes as early as possible. Doing so will enable them to assist with management advice, and cell-free fetal DNA testing may be available.
  • For information about how to arrange testing in Wales, Scotland or Northern Ireland, see our dedicated Knowledge Hub resource.
  • Information about patient eligibility and test indications were correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

References:

For patients

↑ Back to top
  • Last reviewed: 03/07/2024
  • Next review due: 03/07/2025
  • Authors: Professor Maggie Shepherd
  • Reviewers: Dr Amy Frost, Dr Asma Hamad, Professor Kevin Colclough

Related articles