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Hyperinsulinemic hypoglycemia in a patient with a mutation in the insulin receptor
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine. Department of Medicine, University Hospital of Umeå, Umeå, Sweden.ORCID iD: 0000-0002-0574-3175
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics. Department of Clinical Genetics, University Hospital of Umeå, Umeå, Sweden.ORCID iD: 0000-0001-5125-7787
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics. Department of Clinical Genetics, University Hospital of Umeå, Umeå, Sweden.ORCID iD: 0009-0008-4421-770X
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine. Department of Medicine, University Hospital of Umeå, Umeå, Sweden.ORCID iD: 0000-0002-6471-9503
2024 (English)In: JCEM Case Reports, E-ISSN 2755-1520, Vol. 2, no 12, article id luae221Article in journal (Refereed) Published
Abstract [en]

Hyperinsulinemic hypoglycemias resulting from variants in the insulin receptor (INSR) gene are rare but clinically important disorders. We present a male patient in his 30s, experiencing recurrent postprandial hypoglycemic events. Endocrine evaluation revealed an elevated insulin-to-C-peptide ratio. A hypoglycemia gene panel, using next-generation sequencing, identified a heterozygous nonsense variant in the INSR gene (NM_000208.4) c.3079C > T, p.(Arg1027*). Initial treatment with diazoxide reduced hypoglycemic symptoms and led to weight loss and decreased hemoglobin A1c due to reduced compensatory carbohydrate intake. However, limiting side effects on diazoxide prompted a treatment switch to lanreotide with maintained absence of hypoglycemic events. This case highlights the importance of considering variants in the INSR gene as a differential diagnosis in hyperinsulinemic hypoglycemia cases, even in adults.

Place, publisher, year, edition, pages
Endocrine Society, 2024. Vol. 2, no 12, article id luae221
Keywords [en]
INSR, insulin receptor gene, hyperinsulinemia, hypoglycemia, insulin-to-c-peptide ratio
National Category
Endocrinology and Diabetes
Research subject
Medicine
Identifiers
URN: urn:nbn:se:umu:diva-237103DOI: 10.1210/jcemcr/luae221OAI: oai:DiVA.org:umu-237103DiVA, id: diva2:1949185
Available from: 2025-04-01 Created: 2025-04-01 Last updated: 2025-05-07Bibliographically approved

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Imamovic, MarcusVågberg, MattiasCederquist, KristinaDahlqvist, Per

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