Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic
Authors' conclusion
We have shown that monogenic HI is an important cause of hyperinsulinism presenting outside of infancy. Genetic testing should be considered in children with persistent hyperinsulinism, regardless of age at diagnosis.
Study context
- Population
- Individuals with congenital hyperinsulinism (HI) referred for genetic testing as part of routine clinical care
- Participants
- 1,848 individuals
- Exposure
- Childhood-onset vs infancy-onset HI
- Childhood-onsetn = 173
- Infancy-onsetn = 1,675reference
- Outcome
- Proportion with a monogenic (genetic) cause of HI identified
Methodological detailsgenetic testing as part of routine clinical care
- Genetic testing as part of routine clinical care
Main finding
As reported in the abstract
Monogenic cause identified
P < 0.00001
Observational data: associations, not effects.
Further findings
- Genetically confirmed childhood-onset HI diagnosed before 2.7 years
- 75%
Childhood-onset variants also detected in infancy-onset cases
- Variants in childhood-onset cohort also detected in those diagnosed in infancy
- 81%
Original publication
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic. J Clin Endocrinol Metab. Published 14 October 2022. doi:10.
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