biostudies-literatureBoodhansingh KENCATS NIH HHSNIDDK NIH HHS301-313https://www.ebi.ac.uk/biostudies/studies/S-EPMC9339501biostudies-literatureUnknown187(2)<h4>Objective</h4>Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in children. In addition to typical focal or diffuse HI, some cases with diazoxide-unresponsive congenital HI have atypical pancreatic histology termed Localized Islet Nuclear Enlargement (LINE) or mosaic HI, characterized by histologic features similar to diffuse HI, but confined to only a region of pancreas. Our objective was to characterize the phenotype and genotype of children with LINE-HI.<h4>Design</h4>The phenotype and genotype features of 12 children with pancreatic histology consistent with LINE-HI were examined.<h4>Methods</h4>We compiled clinical features of 12 children with LINE-HI and performed next-generation sequencing on specimens of pancreas from eight of these children tEuropean journal of endocrinologyLocalized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.PMC9339501R01 DK056268R01 DK066485R01 DK057699R01 DK098517UL1 TR001878De Leon DDLord KChen PLi CBecker SABoodhansingh KEStanley CAGanguly AYang ZAdzick NSStates LJBhatti TShyng SLfalseLocalized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.<h4>Objective</h4>Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in children. In addition to typical focal or diffuse HI, some cases with diazoxide-unresponsive congenital HI have atypical pancreatic histology termed Localized Islet Nuclear Enlargement (LINE) or mosaic HI, characterized by histologic features similar to diffuse HI, but confined to only a region of pancreas. Our objective was to characterize the phenotype and genotype of children with LINE-HI.<h4>Design</h4>The phenotype and genotype features of 12 children with pancreatic histology consistent with LINE-HI were examined.<h4>Methods</h4>We compiled clinical features of 12 children with LINE-HI and performed next-generation sequencing on specimens of pancreas from eight of these children t2022-01-01T00:00:00Z2022 Aug2026-05-28T01:56:30.155Z2025-04-04T20:28:47.969ZS-EPMC93395013567421210.1530/EJE-21-109510.1530/eje-21-1095