Determinanti della gravità dell'iperinsulinismo nei bambini con sindrome di Beckwith-Wiedemann.

CONTEXT: Congenital hyperinsulinism (HI) is a serious clinical feature of Beckwith-Wiedemann syndrome (BWS) causing severe hypoglycemia. The relationship between BWS genotypes and HI severity is not well understood. OBJECTIVE: Investigate the relationship between molecular determinants of patients with BWS and HI with measures of HI severity. METHODS: This retrospective cohort study included 85 children from 2009-2024, all patients evaluated at single, tertiary care center. BWS genotype frequency included 41 children with pUPD11, 24 with IC2 LOM, 8 with 11p15 chromosomal anomalies, 6 with GWpUPD, 4 with IC1 GOM, and 2 with CDKN1C. Retrospectively reviewed interventions included maximum glu