1例胰岛素受体基因Trp1220Gly新发杂合错义突变A型胰岛素抵抗综合征的诊治探讨  

A novel heterozygous missense mutation of Trp1220Gly in the insulin receptor gene associates with type A insulin resistance syndrome:A case report

作　　者：李月丽 李燕虹[2] 卫国红[3] 杨煜 邓婉萍[3] 李延兵[3] 黄知敏[3] Li Yueli;Li Yanhong;Wei Guohong;Yang Yu;Deng Wanping;Li Yanbing;Huang Zhimin(Department of Endocrinology,the First People′s Hospital of Nanning,Nanning 530022,China;Department of Pediatrics,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China;Department of Endocrinology,the First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080,China)

机构地区：[1]南宁市第一人民医院内分泌科,530022 [2]中山大学附属第一医院儿科,广州510080 [3]中山大学附属第一医院内分泌科,广州510080

出　　处：《中华内分泌代谢杂志》2023年第8期704-709,共6页Chinese Journal of Endocrinology and Metabolism

基　　金：国家重点研发计划(2018YFC314100);国家自然科学基金面上项目(82070918);广东省重点领域研发计划项目(2019B020230001)。

摘　　要：报告1例A型胰岛素抵抗综合征患者的诊断与治疗。16岁女性,体重指数19.1 kg/m^(2),主诉原发性闭经伴血糖升高2年。基线HbA1C 10.8%,显著高胰岛素血症,总睾酮与游离雄激素指数(FAI)升高,B超示双侧卵巢多囊样改变。二代测序发现患者存在胰岛素受体基因Trp1220Gly新发杂合错义突变。给予胰岛素泵短期强化治疗,续以甘精胰岛素、吡格列酮、阿卡波糖联合治疗,患者空腹血糖与胰岛素明显降低,负荷后高血糖与高胰岛素血症控制欠满意,随访1年HbA_(1C)降至7.6%。青春期起病、体型消瘦的多囊卵巢综合征患者需考虑A型胰岛素抵抗综合征。目前暂无标准化治疗方案,不同基因突变患者的治疗应个体化。We report a case of type A insulin resistance syndrome.A 16-year-old girl with BMI of 19.1 kg/m2 presented with primary amenorrhea and hyperglycemia for two years.Baseline HbA1C was 10.8%,along with severe hyperinsulinemia,increased total testosterone and free androgen index(FAI).Ultrasonography showed polycystic ovaries.Next generation sequencing identified a novel and de novo heterozygous missense mutation of Trp1220Gly in the insulin receptor gene.Short-term intensive insulin pump treatment was initiated,followed by insulin glargine,pioglitazone and acarbose combination regiment.Fasting blood glucose and insulin levels decreased significantly,but post-load hyperglycemia and hyperinsulinemia remained unsatisfactory.HbA1C dropped to 7.6%at 1-year follow up.Patients with polycystic ovarian syndrome who are adolescent-onset and with lean body type should be taken into account of type A insulin resistance syndrome.Currently,there is no standardized treatment protocol,and therapy should be individualized based on the specific gene mutation of each patient.

关 键 词：胰岛素受体基因 突变 A型胰岛素抵抗综合征 治疗 

分 类 号：R587[医药卫生—内分泌]