Congenital hyperinsulinism is a complex condition requiring specialised care through an expert multidisciplinary team.

Genetics as Part of Personalised Care

Because congenital hyperinsulinism is caused by many different genes, genetic testing is an important part of personalised care. Understanding the genetic cause helps ensure that each child receives the most appropriate investigations, treatment, and long-term support.

Although people often talk about congenital hyperinsulinism as a single condition, it is actually many different conditions caused by changes in different genes. This explains why the condition can look very different from one person to another.

Some babies have mild or short-lasting hypoglycaemia, while others have severe or long-term hyperinsulinism that needs specialist treatment. These differences are often explained by the underlying genetic cause.

How Knowing the Genetics Helps Guide Care

1. Helping Choose the Right Treatment

Different genetic types of congenital hyperinsulinism respond differently to medication.

• Some genetic forms respond well to medicines such as diazoxide.

• Other forms do not respond to these medicines and may need different treatments.

2. Deciding Whether Surgery May Help

In some children, congenital hyperinsulinism affects the whole pancreas, referred to as diffuse disease, while in others it affects only a small area or focal disease.

• Certain genetic results suggest that hyperinsulinism may be limited to a small “focal” area.

• In these cases, special scans can be done to find the affected area, and surgery may be curative.

Genetic testing can therefore help decide whether surgery is needed and, if so, what type of surgery is most appropriate.

3. Understanding What to Expect in the Future

The genetic cause of congenital hyperinsulinism can give useful information about:

• Whether hyperinsulinism is likely to improve or resolve over time

• Whether long-term treatment may be needed

• Possible future risks, such as developing diabetes later in life

This information helps families and healthcare teams plan follow-up care and monitoring.

4. Supporting Families and Family Planning

A genetic diagnosis can also:

• Help explain why a child has hyperinsulinism

• Clarify whether other family members might be affected

• Provide information for future pregnancies

Families may be offered genetic counselling to discuss what the results mean for them.

UK Clinical Referral Services for CHI

The UK nationally designated CHI service is commissioned on behalf of the NHS and comprises of two specialist centres; Great Ormond Street Hospital for Children NHS Foundation Trust and The Northern Congenital Hyperinsulinism Service (NORCHI). NORCHI comprises of two centres, the Royal Manchester Children’s Hospital (RMCH) in Manchester and Alder Hey Children’s Hospital in Liverpool. Both are designated Congenital Hyperinsulinism International Centres of Excellence.

Further details regarding the clinical management of patients in the UK with this condition and contact information for each centre can be found on their websites.

International Guidelines for The Diagnosis and Management of Hyperinsulinism.

In 2024 an international guideline-writing committee comprised a group of 17 members including pediatric endocrinologists, an adult endocrinologist, a pathologist, a genetic scientist from the Exeter team, and a representative of an international patient advocacy organization for HI developed the International Guidelines for the Diagnosis and Management of Hyperinsulinism. These guidelines have also been written in a family-friendly language. These simplified guidelines were written by the advocacy and awareness group of the Collaborative Research Network.