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Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia

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dc.contributor.authorLarsen, Annette Rønholt
dc.contributor.authorBrusgaard, Klaus
dc.contributor.authorChristesen, Henrik Thybo
dc.contributor.authorDetlefsen, Sönke
dc.date.accessioned2024-06-07T11:05:50Z
dc.date.available2024-06-07T11:05:50Z
dc.date.issued2024
dc.description.abstractHyperinsulinemic hypoglycemia (HH) of pancreatic origin includes congenital hyperinsulinism (CHI), insulinoma, insulinomatosis, and adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia syndrome (NI-PHHS). In this review, we describe the genotype-histotype-phenotype correlations in HH and their therapeutic implications. CHI can occur from birth or later on in life. Histologically, diffuse CHI shows diffuse beta cell hypertrophy with a few giant nuclei per islet of Langerhans, most frequently caused by loss-of-function mutations in ABCC8 or KCNJ11. Focal CHI is histologically characterized by focal adenomatous hyperplasia consisting of confluent hyperplastic islets, caused by a paternal ABCC8/KCNJ11 mutation combined with paternal uniparental disomy of 11p15. CHI in Beckwith-Wiedemann syndrome is caused by mosaic changes in the imprinting region 11p15.4-11p15.5, leading to segmental or diffuse overgrowth of endocrine tissue in the pancreas. Morphological mosaicism of pancreatic islets is characterized by occurence of hyperplastic (type 1) islets in one or a few lobules and small, shrunken (type 2) islets. Other rare genetic causes of CHI show less characteristic or unspecific histology. HH with a predominant adult onset includes insulinomas, which are pancreatic insulin-producing endocrine neoplasms, in some cases with metastatic potential. Insulinomas occur sporadically or as part of multiple endocrine neoplasia type 1 due to MEN1 mutations. MAFA mutations lead histologically to insulinomatosis with insulin-producing neuroendocrine microadenomas or neuroendocrine neoplasms. NI-PHHS is mainly seen in adults and shows slight histological changes in adults and may show slight histological changes, defined by major and minor criteria. The genetic cause is unknown in most cases. The diagnosis of HH, as defined by genetic, histological, and phenotypic features, has important implications for patient management and outcome.es
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dc.format.extent28es
dc.identifier.citationHistology and Histopathology Vol. 39, nº7 (2024)
dc.identifier.doihttps://doi.org/10.14670/HH-18-709
dc.identifier.issn0213-3911
dc.identifier.issn1699-5848
dc.identifier.urihttp://hdl.handle.net/10201/142153
dc.languageenges
dc.publisherUniversidad de Murcia, Departamento de Biologia Celular e Histiologiaes
dc.relationSin financiación externa a la Universidades
dc.rightsinfo:eu-repo/semantics/openAccesses
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectCongenital hyperinsulinismes
dc.subjectAdult-onset non-insulinoma persistent hyperinsulinemic hypo-glycemia syndromees
dc.subjectInsulinomaes
dc.subjectInsulinomatosises
dc.subjectNesidioblastosises
dc.subjectMosaicismes
dc.subjectHistologyes
dc.subjectSomatic mutationses
dc.subject.otherCDU::6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncologíaes
dc.titleGenotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemiaes
dc.typeinfo:eu-repo/semantics/articlees
dspace.entity.typePublicationes
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Histology and histopathology Vol.39, nº7 (2024)