One case of severe insulin resistance syndrome associated with a novel insulin receptor mutation

Zhuomeng HU; Qicheng NI; Yufei CHEN; Rulai HAN; Qianyun CHENG; Juan SHI; Lei YE; Weiqing WANG; Yifei ZHANG

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One case of severe insulin resistance syndrome associated with a novel insulin receptor mutation

VernacularTitle:一例新的胰岛素受体突变相关的严重胰岛素抵抗综合征
Author: Zhuomeng HU ¹ ; Qicheng NI ¹ ; Yufei CHEN ¹ ; Rulai HAN ¹ ; Qianyun CHENG ¹ ; Juan SHI ¹ ; Lei YE ¹ ; Weiqing WANG ¹ ; Yifei ZHANG ¹
Author Information

1. 上海交通大学医学院附属瑞金医院内分泌代谢病科，上海市内分泌代谢病研究所，国家代谢性疾病临床医学研究中心(上海)，国家卫生健康委员会内分泌代谢病重点实验室，上海市内分泌肿瘤重点实验室，上海　200025
Publication Type:Journal Article
Keywords: Insulin resistance; Hyperinsulinemia; Insulin receptor; Genetic diagnosis
From: Chinese Journal of Endocrinology and Metabolism 2024;40(12):1059-1064
CountryChina
Language:Chinese
Abstract: Severe insulin resistance syndrome associated with mutations in the insulin receptor(INSR) gene is rare in clinical practice. We report a 13-year-old female patient with insulin resistance, acanthosis nigricans, and Class Ⅱ malocclusion, whose family history included hyperinsulinemia in both her mother and grandmother. Whole-exome sequencing and PCR-Sanger validation identified a novel INSR mutation, c. 637delA(p.S213Vfs*69), resulting in a pathogenic variant that substitutes serine at position 213 with valine. This case highlights a clinical phenotype that is challenging to differentiate between Rabson-Mendenhall syndrome and A-type insulin resistance syndrome. Long-term follow-up is crucial to assess disease progression and prognosis.