Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome
Authors' conclusion
Patients with pUPD11 experience more severe HI, while patients with IC2 LOM, IC1 GOM, and CDKN1C exhibit milder disease. Based on our findings, we designed a genetic testing algorithm to guide clinical management.
Study context
- Population
- Children with Beckwith-Wiedemann syndrome (BWS) and congenital hyperinsulinism (HI), single tertiary care centre, 2009–2024
- Participants
- 85 children
- Exposure
- BWS genotypes compared for HI severity
- pUPD11n = 41
- IC2 LOMn = 24
- 11p15 chromosomal anomaliesn = 8
- GWpUPDn = 6
- IC1 GOMn = 4
- CDKN1Cn = 2
- Outcome
- Association between BWS genotypes and measures of HI severity (max GIR, diazoxide responsiveness, surgery)
Methodological detailssingle-centre, tertiary care
- Single-centre
- Tertiary care
Main finding
As reported in the abstract
HI severity by genotype
- Most patients with IC2 LOM, IC1 GOM or CDKN1C were diazoxide responsive and did not require surgery
- Patients with pUPD11 were more likely to be diazoxide unresponsive and to require surgery
- pUPD11: P = 0.004
- pUPD11: P = 0.029
- pUPD11: P = 0.012
Observational data: associations, not effects.
Secondary outcomes
pUPD11 length and KATP variants vs diazoxide responsiveness and surgical need
- In pUPD11, diazoxide unresponsiveness and surgery especially likely if pUPD11 length extended into the KATP gene region and if a pathogenic ABCC8 or KCNJ11 variant was present
Original publication
Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome. J Clin Endocrinol Metab. Published 8 February 2026. doi:10.
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