{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:01:00Z","timestamp":1790254860388,"version":"4.1.0"},"reference-count":63,"publisher":"The Endocrine Society","issue":"2","license":[{"start":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T00:00:00Z","timestamp":1720051200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005036","name":"University of Bergen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005036","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005029","name":"Western Norway Regional Health Authority","doi-asserted-by":"publisher","award":["912258"],"award-info":[{"award-number":["912258"]}],"id":[{"id":"10.13039\/501100005029","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005416","name":"Research Council of Norway","doi-asserted-by":"publisher","award":["240788"],"award-info":[{"award-number":["240788"]}],"id":[{"id":"10.13039\/501100005416","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","award":["NNF21OC0070310"],"award-info":[{"award-number":["NNF21OC0070310"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["293574"],"award-info":[{"award-number":["293574"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Stiftelsen Trond Mohn Foundation"},{"name":"Mohn Center of Diabetes Precision Medicine"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Purpose<\/jats:title>\n                  <jats:p>Congenital hyperinsulinism (CHI) is a rare, monogenic disease characterized by excessive insulin secretion. We aimed to evaluate all probands with suspected CHI in Norway registered over the past 2 decades.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The study included 98 probands. Clinical data were cumulated from medical records. All probands were screened for variants in the genes ABCC8 and KCNJ11. Other CHI-related genes were Sanger-sequenced as indicated by the patients\u2019 phenotype (n = 75) or analyzed by next-generation sequencing employing a panel of 30 CHI-related genes (n = 23).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Twenty-one probands (21%) received a diagnosis other than CHI, the most common being idiopathic ketotic hypoglycemia (9%) or syndromic hyperinsulinism (4%). In the final cohort of 77 CHI probands, genetic findings were revealed in 46 (60%). ABCC8 variants were most common (n= 40), and 5 novel variants were identified. One proband harbored both the pathogenic GCK variant p.(Ala456Val) and the ABCC8 variant p.(Gly505Cys). Although most ABCC8 variants caused immediate disease onset with severe hypoglycemia and were diazoxide-unresponsive, 8 probands had a heterozygous, apparently dominant variant with milder phenotype. Two probands had pathogenic variants in GLUD1, whereas variants in HADH, HNF4A, KCNJ11, and HK1 were identified in 1 proband each, the latter being noncoding. Neurologic sequelae were reported in 53% of the CHI probands. Of nonsurgically treated probands, 43% had spontaneous resolution. The minimum birth prevalence of CHI in Norway is 1:19,400 live births.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Main Conclusion<\/jats:title>\n                  <jats:p>Individuals with disease-causing ABCC8 variants dominated our cohort. Patients with known genetic etiology had earlier and more severe disease onset than genetically unsolved patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae459","type":"journal-article","created":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T23:34:08Z","timestamp":1719963248000},"page":"554-563","source":"Crossref","is-referenced-by-count":16,"title":["Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study"],"prefix":"10.1210","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9355-9619","authenticated-orcid":false,"given":"Christoffer Drabl\u00f8s","family":"Velde","sequence":"first","affiliation":[{"name":"Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen , N-5020 Bergen ,","place":["Norway"]},{"name":"Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen , N-5020 Bergen 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,","place":["Norway"]},{"name":"Children and Youth Clinic, Haukeland University Hospital , N-5021 Bergen ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1847-3079","authenticated-orcid":false,"given":"Anders","family":"Molven","sequence":"additional","affiliation":[{"name":"Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen , N-5020 Bergen ,","place":["Norway"]},{"name":"Mohn Center for Diabetes Precision Medicine, Department of Clinical Science, University of Bergen , N-5020 Bergen ,","place":["Norway"]},{"name":"Department of Pathology and Section for Cancer Genomics, Haukeland University Hospital , N-5021 Bergen 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