非自身免疫性甲状腺功能亢进症1例临床和基因变异分析  

Clinical manifestation and gene mutation analysis of non-autoimmune hyperthyroidism in a child

作　　者：袁雪雯[1] 楚闪闪 顾威[1] 朱子阳[1] YUAN Xuewen;CHU Shanshan;GU Wei;ZHU Ziyang(Department of Endocrinology,Children’s Hospital of Nanjing Medical University,Nanjing 210008,Jiangsu,China)

机构地区：[1]南京医科大学附属儿童医院内分泌科,江苏南京210008

出　　处：《临床儿科杂志》2021年第4期291-293,共3页Journal of Clinical Pediatrics

基　　金：南京医科大学科技发展基金-重点项目(No.2017NJMUZD063)。

摘　　要：目的分析非自身免疫性甲状腺功能亢进症的临床及遗传学特征。方法回顾分析1例非自身免疫性甲状腺功能亢进症患儿的临床资料和基因检测结果。结果患儿,男,9月龄,以心率增快为主要表现,合并全面性发育迟缓、先天性心脏病等。实验室检测提示促甲状腺激素降低,游离三碘甲状腺原氨酸及游离甲状腺素均升高,相关抗体检查全部阴性。基因检测发现TSHR基因第10外显子c.1894A>G(p.T 632A)的错义变异,为新发变异,尚未见报道,经软件预测为致病性变异。予患儿甲巯咪唑口服治疗,甲状腺功能明显好转,发育落后改善。结论基因检测有利于非自身免疫性甲状腺功能亢进症的诊断。Objective To explore the clinical manifestations and genetic characteristics of non-autoimmune hyperthyroidism.Methods The clinical data and gene sequencing results of non-autoimmune hyperthyroidism in a child were retrospectively analyzed.Results A 9-month-old boy had a rapid heart rate as the main manifestation,combined with general developmental retardation and congenital heart disease,etc.Laboratory tests showed that the level of thyroid stimulating hormone was decreased,the levels of free triiodothyronine and free thyroxine were increased,and all related antibody tests were negative.The missense mutation of c.1894 A>G(p.T632 A)in exon 10 of TSHR gene was found by gene detection.It was a new mutation and had not been reported.It was predicted to be pathogenic by software.After oral treatment with methimazole,thyroid function was significantly improved and developmental retardation was improved.Conclusion Gene detection is beneficial to the diagnosis of non-autoimmune hyperthyroidism.

关 键 词：非自身免疫性甲状腺功能亢进症 TSHR基因 生长发育落后 

分 类 号：R725.8[医药卫生—儿科]