Resources for Clinicians

International Guidelines

In 2024 an international guideline-writing committee comprised a group of 17 members including pediatric endocrinologists, an adult endocrinologist, a pathologist, a genetic scientist, 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 (see resources for families).

 

The HIgenes Slide Library

A collection of slides from the Hyperinsulinism Genes team to support learning and shared understanding of hyperinsulinism genetics. The library provides clear, visual explanations of key genes, mechanisms, and inheritance patterns, and will continue to grow over time.

Core Concepts

 

Focal Hyperinsulinism Inheritance

Incomplete Penetrance

Dominant Inheritance

Recessive Inheritance

 

Please note: Slides may be used for educational and clinical purposes with attribution to the Hyperinsulinism Genes team. Please retain logos, avoid altering core content, and do not use slides for commercial purposes. Always check you are using the most up-to-date version. We welcome feedback on these slides.

The Exeter Centre for Hyperinsulinism Genetics YouTube Channel

Our YouTube channel shares videos from our team, including conference talks, research updates, and easy-to-understand educational content. Our aim is to increase awareness and understanding of congenital hyperinsulinism, share the latest discoveries in genetics, and support families, patients, and healthcare professionals around the world. Access it here

The Congenital Hyperinsulinism Wikipedia Page

In 2022 a committee of experts which included a geneticist for the HIgenes team produced a consensus update for the congenital hyperinsulinism Wikipedia page. This project was made possible by working with a skilled Wikipedian in Residence at the National Institute of Health Research (NIHR) and the Congenital Hyperinsulinism International, Collaborative Research Network. The page provides a comprehensive overview of the diagnosis and management of congenital hyperinsulinism.

Publications

The team have published over 150 peer-reviewed papers on congenital hyperinsulinism. Many of these studies are performed in collaboration with our growing network of international clinicians and researchers. Key achievements include discovering new genetic causes of disease, connecting genetic findings with clinical outcomes, improving how genetic variants are identified and understood in patient care and developing new computational tools for analysis of genetic data.