ESPE Abstracts

Background: It is critically important to correctly diagnose hyperinsulinemic hypoglycemia (HH) to avoid neurological sequelae. However, the diagnosis is not always easy in the critical care setting since some patients present with atypical biochemical profiles.Objective and hypotheses: To delineate the range of biochemical data of HH patients at hypoglycemia to help establish a better diagnostic criteria.Method: Biochemical data (...

Background: Approximately 70% of transient neonatal diabetes mellitus (TNDM) are caused by abnormalities in the imprinted locus at chromosome 6q24, and the remaining 30% are caused by heterozygous mutations in the KATP-channel genes, ABCC8 or KCNJ11. Only a few cases of TNDM are reported to be caused by biallelic, recessive mutations in the insulin (INS) gene.Objective and hypotheses: To explore the role of INS gene mutations as a cause of tra...