Nationwide Epidemiology and Genetic Background of Persistent Nonsyndromic Congenital Hyperinsulinism in Slovakia
Authors' conclusion
Nonsyndromic CHI is a rare disease with nationwide incidence in Slovakia of 1:39,804. Diazoxide-unresponsive CHI accounts for 21% of all the cases. A genetic cause was identified in 32% (100% in diazoxide-unresponsive) of children; mutations in the ABCC8 gene were the most prevalent. The type of mutation determines the most appropriate management strategy, including pancreatic surgery.
Study context
- Population
- Children with persistent nonsyndromic congenital hyperinsulinism (CHI) diagnosed 2005–2024 in Slovakia, nationwide Diabgene database
- Participants
- 28 children
- Outcome
- Epidemiology (incidence, prevalence) and genetic background of persistent nonsyndromic CHI
Methodological detailsDiabgene database, DNA analysis of the most common CHI genes, Epidemiology calculated using Slovak demographic data
- Diabgene database
- DNA analysis of the most common CHI genes
- Epidemiology calculated using Slovak demographic data
Main finding
As reported in the abstract
Incidence, prevalence and genetic cause of nonsyndromic CHI
- Overall incidence over the last 20 years
- 1:39,804 live births
- Prevalence in 2024 (children <19 years)
- 1:161,802
- Genetic cause identified
- 9 children (32%)
- ABCC8 mutation
- n = 4
- KCNJ11 mutation
- n = 2
- HNF4A mutation
- n = 2
- HK1 mutation
- n = 1
Observational data: associations, not effects.
Further findings
Diazoxide-unresponsive CHI
- Diazoxide-unresponsive CHI
- n = 6
- Mutation in ABCC8 or KCNJ11
- 5 children
- Mutation in HK1
- 1 child
Focal form with paternally inherited recessive mutation, pancreatic surgery
- Focal form, underwent pancreatic surgery
- 4 children
Original publication
Nationwide Epidemiology and Genetic Background of Persistent Nonsyndromic Congenital Hyperinsulinism in Slovakia. Horm Res Paediatr. Published 28 November 2025. doi:10.
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