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Case Reports
. 2024 Dec 5;2(12):luae221.
doi: 10.1210/jcemcr/luae221. eCollection 2024 Dec.

Hyperinsulinemic Hypoglycemia in a Patient With a Mutation in the Insulin Receptor

Marcus Imamovic  1   2 , Mattias Vågberg  3   4 , Kristina Cederquist  3   4 , Per Dahlqvist  1   2
Affiliations
Case Reports

Hyperinsulinemic Hypoglycemia in a Patient With a Mutation in the Insulin Receptor

Marcus Imamovic et al. JCEM Case Rep. .

Abstract

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.

Keywords: INSR; hyperinsulinemia; hypoglycemia; insulin receptor gene; insulin-to-c-peptide ratio.

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Figures

Figure 1.
Figure 1.
Results from measured fasting insulin and C-peptide levels at random dates and time points during the diagnostic assessment. Black whiskers to the left indicate the reference range for insulin. Gray whiskers to the right indicate the reference range for C-peptide. Note Système International (SI) units.
See this image and copyright information in PMC

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