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Updated: Feb 6, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Diagnosis and management of hyperinsulinaemic hypoglycaemia
Sonya Galcheva1, Sara Al-Khawaga2, Khalid Hussain2
1Dept. of Paediatrics, Varna Medical University/University Hospital "St. Marina", Varna, Bulgaria.
Insights
Hyperinsulinaemic hypoglycaemia (HH) is a common cause of severe low blood sugar in children, driven by genetic mutations affecting insulin secretion. Prompt diagnosis and treatment are crucial to prevent brain damage.
Area of Science:
- Pediatric Endocrinology
- Medical Genetics
Background:
- Hyperinsulinaemic hypoglycaemia (HH) is a heterogeneous disorder characterized by dysregulated insulin secretion during low blood glucose.
- It is the leading cause of persistent, severe hypoglycaemia in neonates and children.
- Genetic mutations in 14 key insulin secretion regulatory genes are linked to congenital HH.
Purpose of the Study:
- To review current diagnostic methods for hyperinsulinaemic hypoglycaemia in children.
- To summarize contemporary management strategies for paediatric HH.
- To highlight recent advancements in HH diagnosis and treatment.
Main Methods:
- Review of recent advances in molecular genetic testing.
- Discussion of novel imaging techniques such as 18F-DOPA PET/CT.
- Summary of emerging medical therapies and surgical approaches.
Main Results:
- Congenital HH is classified histologically into diffuse, focal, and atypical types.
- Advances include rapid genetic testing and improved imaging.
- New medical treatments (octreotide, mTOR inhibitors, GLP-1 antagonists) and laparoscopic surgery are available.
Conclusions:
- Timely diagnosis and treatment of HH are essential to prevent irreversible hypoglycaemic brain damage.
- The review consolidates current knowledge on HH diagnosis and management in children.
- Recent innovations offer improved therapeutic options for HH patients.
Abstract:
Hyperinsulinaemic hypoglycaemia (HH) is a heterogeneous condition with dysregulated insulin secretion which persists in the presence of low blood glucose levels. It is the most common cause of severe and persistent hypoglycaemia in neonates and children. Recent advances in genetics have linked congenital HH to mutations in 14 different genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1, PPM2, CACNA1D, FOXA2). Histologically, congenital HH can be divided into 3 types: diffuse, focal and atypical. Due to the biochemical basis of this condition, it is essential to diagnose and treat HH promptly in order to avoid the irreversible hypoglycaemic brain damage. Recent advances in the field of HH include new rapid molecular genetic testing, novel imaging methods (18F-DOPA PET/CT), novel medical therapy (long-acting octreotide formulations, mTOR inhibitors, GLP-1 receptor antagonists) and surgical approach (laparoscopic surgery). The review article summarizes the current diagnostic methods and management strategies for HH in children.
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