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Published on: November 16, 2011
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experience
Semra Gundogdu1, Mustafa Ciftci2, Enver Atay2
1Department of Neonatalogy, Istanbul Medipol University, School of Medicine, Istanbul, Turkey.
Insights
Congenital hyperinsulinism (CHI) presents heterogeneously, but a high spontaneous remission rate (66%) is observed, even in severe cases. Genetic analysis and imaging aid in understanding outcomes for hyperinsulinemic hypoglycemia.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Genetics
Background:
- Congenital hyperinsulinism (CHI) is a rare cause of persistent hyperinsulinemic hypoglycemia.
- Understanding the clinical, genetic, and radiological features is crucial for management.
- Heterogeneity in presentation and response to treatment necessitates individualized care.
Purpose of the Study:
- To evaluate clinical, laboratory, radiological, and molecular genetic data of patients with hyperinsulinism.
- To present findings on treatment modalities and outcomes in a cohort of CHI patients.
- To explore factors associated with spontaneous remission in hyperinsulinemic hypoglycemia.
Main Methods:
- Retrospective analysis of 9 patients with congenital hyperinsulinism.
- Data collection included demographics, clinical presentation, biochemical levels, treatment response, genetic analysis, and 18F-DOPA PET imaging.
- Analysis of KATP channel mutations and diazoxide responsiveness.
Main Results:
- KATP channel mutations were found in 55% of patients, with 55% unresponsive to diazoxide.
- 18F-DOPA PET identified focal lesions in 3 of 4 diazoxide-unresponsive patients.
- A high spontaneous remission rate of 66% was observed, including in diazoxide-unresponsive and focal lesion cases.
Conclusions:
- Congenital hyperinsulinism exhibits a heterogeneous clinical presentation.
- Spontaneous remission is common, even in severe cases, highlighting the need for predictive markers.
- Comprehensive clinical and genetic data are vital for guiding the management of hyperinsulinemic hypoglycemia.
Objectives:
To evaluate and present the data regarding clinical, laboratory, radiological and the results of molecular genetic analysis of patients with hyperinsulinemic hypoglycemia in our clinics.
Methods:
A total of 9 patients with CHI followed at Istanbul Medipol University. Data related to gender, age at presentation, birth weight, gestational age, consanguinity, glucose and insulin levels at diagnosis, treatment modalities, response to treatment, the results of genetic analysis and radiological evaluation were gathered from the files.
Results:
The oldest age at presentation was 6 months. KATP channel mutation was detected in 55% (n: 5). Diazoxide unresponsiveness was seen in 55% (n: 5). Octreotide was effective in 3 of them. 18F-DOPA PET performed in 4 diazoxide unresponsive patients revealed focal lesion in 3 of them. Spontaneous remission rate was 66% (n:6). All the patients with normal genetic result achieved spontaneous remission. Spontaneous remission was even noted in diazoxide unresponsive patients and in patients with focal lesion on 18F-DOPA PET.
Conclusions:
Clinical presentation of patients with congenital hypereinsulinism is heterogeneous. Spontaneous remission rate is quite high even in patients with severe clinical presentation. It is important to develop methods that can predict which patients will have spontaneous remission. Reporting the clinical and laboratory data of each patient is important and will help to guide the management of patients with hyperinsulinemic hypoglycemia.
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