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Published on: November 16, 2011
Hyperinsulinaemic hypoglycaemia in infancy and childhood--resolving the enigma
1The London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children, UK. K.Hussain@ich.ucl.ac.uk
Insights
Persistent hyperinsulinism (HI) in infants causes severe hypoglycemia. Recent research has significantly advanced understanding of the abnormal insulin secretion mechanisms underlying this condition.
Area of Science:
- Pediatric Endocrinology
- Molecular Biology
- Biochemistry
Background:
- Persistent hyperinsulinism (HI) in infancy presents significant management challenges.
- The pathophysiology of HI was previously poorly understood, often attributed to 'nesidioblastosis'.
Purpose of the Study:
- To review recent advancements in understanding the pathophysiology of hyperinsulinism in infancy.
- To highlight the collaborative research efforts contributing to new insights.
Main Methods:
- Review of publications generated by the European Network for Research into Hyperinsulinism of Infancy (ENRHI).
- Integration of clinical, biochemical, physiological, and molecular biology data.
Main Results:
- Significant progress in elucidating the pathological mechanisms of abnormal insulin secretion in HI.
- Identification of key insights into the pathophysiology of hyperinsulinism.
Conclusions:
- Collaborative research, exemplified by ENRHI, is crucial for advancing pediatric endocrinology.
- New knowledge provides a better understanding of hyperinsulinism, aiding future management strategies.
Abstract:
Children with severe hypoglycaemia due to persistent hyperinsulinism in infancy (HI) generate some of the most formidable problems of management in contemporary paediatric endocrinology. Until recently its pathophysiology was an enigma, although it was thought to be due to an anatomical abnormality in the islets of Langerhans (so called 'nesidioblastosis'). During the last 6 years there has been an explosion of knowledge providing fundamental insights into the pathological mechanisms underpinning the abnormal insulin secretion. This knowledge has been facilitated by ENRHI, a programme of research funded by the European Union, which brings together clinicians and basic scientists from 14 different countries. This collaboration encompasses clinical paediatric endocrinology, intracellular biochemistry, membrane physiology and molecular biology. This collaboration has resulted in numerous publications generating new insights into the pathophysiology of HI and represents a paradigm for collaboration in paediatric endocrinology. This review article is based on a plenary lecture delivered at the European Society for Paediatric Endocrinology meeting in Montreal on behalf of the European Network for Research into Hyperinsulinism of Infancy (ENRHI).
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