Germline and somatic mutations in histologically atypical congenital hyperinsulinism
Histologically atypical CHI was seen in 7.1% of surgically treated CHI patients and characterized by discrete changes with enlarged islets of Langerhans and a low frequency of giant nuclei in endocrine cells. Genetics showed heterozygous or low-grade mosaic <i>HK1</i> intron 2 DNA variants in three patients. Low-grade mosaic pancreatic genetic changes may only be detectable after islet isolation by laser-capture microdissection.
Authors
- Eva Kildall Hejbøl (ORCID: https://orcid.org/0000-0002-3462-321X)
- Annette Rønholt Larsen (ORCID: https://orcid.org/0000-0002-7105-4028)
- Ditte Caroline Andersen (ORCID: https://orcid.org/0000-0003-4940-7912)
- Anne Lerberg Nielsen (ORCID: https://orcid.org/0000-0002-6130-9736)
- Evgenia Globa
- Sönke Detlefsen
- Michael Bau Mortensen
- Klaus Brusgaard
- Henrik Thybo Christesen
- Åsa Löfgren Mattsson
- Catarina Limbert
Institutions
- University of Southern Denmark (DK)
- Odense University Hospital (DK)
- Ministry of Health (UA)
- Hospital de Dona Estefânia (PT)
- Helsingborgs lasarett (SE)
- Lillebaelt Hospital (DK)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2026-01-05
- DOI
- https://doi.org/10.3389/fendo.2025.1692539
- Citations
- 1
- Primary Topic
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Type
- article
- Field-Weighted Citation Impact
- 30.73