hrp0097rfc10.3 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Non-coding Variants in HK1 Account for 5% of Cases of Congenital Hyperinsulinism Without an Identified Genetic Cause

Rosenfeld Elizabeth , E. Boodhansingh Kara , A. Stanley Charles , Ganguly Arupa , D. De Leon Diva

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...

hrp0095rfc11.5 | Late Breaking | ESPE2022

Dasiglucagon Treatment Over 21 days in Infants with Congenital Hyperinsulinism Results in Glycaemic Stability and Reduces Requirement for Intravenous Glucose

Banerjee Indraneel , D. De Leon Diva , M. Kendall David , Birch Sune , Bøge Eva , Ivkovic Jelena , S Thornton Paul , Nurdan Ciftci , Huseyin Demirbilek

Background: Congenital hyperinsulinism (CHI) is a chronic and complex rare endocrinopathy with dysregulated insulin secretion causing severe and recurrent hypoglycemia resulting in adverse neurologic and developmental sequelae in children. Current treatment options are limited and often inadequate to treat CHI. Dasiglucagon (DASI), a glucagon analog administered by subcutaneous continuous infusion, has demonstrated reduction in glucose infusion rate (GIR) in P...