Imamovic Marcus, Vågberg Mattias, Cederquist Kristina, Dahlqvist Per
Department of Medicine, University Hospital of Umeå, 901 85 Umeå, Sweden.
Department of Public Health and Clinical Medicine, Umeå University, 901 87 Umeå, Sweden.
JCEM Case Rep. 2024 Dec 5;2(12):luae221. doi: 10.1210/jcemcr/luae221. eCollection 2024 Dec.
Hyperinsulinemic hypoglycemias resulting from variants in the insulin receptor () 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 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 gene as a differential diagnosis in hyperinsulinemic hypoglycemia cases, even in adults.
由胰岛素受体（）基因突变导致的高胰岛素血症性低血糖症虽罕见，但却是临床上的重要病症。我们报告了一名30多岁的男性患者，他反复出现餐后低血糖事件。内分泌评估显示胰岛素与C肽比值升高。利用下一代测序技术进行的低血糖症基因检测发现，胰岛素受体基因（NM_000208.4）存在一个杂合无义变异c.3079C>T，p.（Arg1027*）。最初使用二氮嗪治疗可减轻低血糖症状，且由于代偿性碳水化合物摄入量减少，导致体重减轻和糖化血红蛋白水平降低。然而，二氮嗪的副作用限制促使治疗改为使用兰瑞肽，此后未再发生低血糖事件。该病例强调，即使在成人中，考虑胰岛素受体基因突变作为高胰岛素血症性低血糖症病例的鉴别诊断也很重要。
