1例DiGeorge综合征合并甲状腺功能减低症患儿内分泌系统评估及文献复习  

Endocrine System Evaluation and Literature Review in a Child with DiGeorge Syndrome Complicated with Hypothyroidism

作　　者：邓姗姗 陈镜宇[1] 李荣[1] 宋萃[1] Deng Shanshan;Chen Jingyu;Li Rong;Song Cui(Children’s Hospital of Chongqing Medical University,National Clinical Research Center for Child Health and Disorders,Ministry of Education Key Laboratory of Child Development and Disorders,Chongqing Key Laboratory of Pediatrics,National Demonstration Base for Standardized Training of Resident Physicians,Chongqing 400014,China;Chongqing Emergency Medical Center,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿科学重庆市重点实验室,国家住院医师规范化培训示范基地,重庆400014 [2]重庆市急救医疗中心,重庆400014

出　　处：《儿科药学杂志》2022年第8期28-31,共4页Journal of Pediatric Pharmacy

基　　金：重庆市科卫联合医学科研重点项目,编号2018ZDXM008;重庆市教育委员会科学技术研究项目,编号KJQN201900448。

摘　　要：目的:报道1例DiGeorge综合征(DGS)合并甲状腺功能减低症病例的内分泌系统评估,总结诊断治疗随访经验并结合文献初步探讨其发生甲状腺功能减低症的可能机制。方法:基于患儿具有低代谢、发育落后、多发畸形等表现,为明确诊断,对该病例进行全外显子测序,并重点对其内分泌系统的主要表现进行表型和基因型分析。结果:该患儿在22q11.21区域存在>2.45Mb的杂合性缺失,内含TBX1等多个基因。结合患儿临床表现、甲状腺功能测定等诊断为DGS合并甲状腺功能减低症。予以优甲乐替代治疗后患儿低代谢症候群、发育落后等症状明显好转。结论:DGS患儿需重视甲状腺功能的评估。Objective:To report the endocrine system evaluation of a case of DiGeorge syndrome(DGS)complicated with hypothyroidism,summarize the experience of diagnosis,treatment and follow-up,and preliminarily explore the possible mechanism of hypothyroidism in combination with literature.Methods:Based on the child’s symptoms such as low metabolism,underdevelopment and multiple malformations,whole exon sequencing was performed on the child to confirm the diagnosis,both the phenotype and genotype analysis were focused on the main manifestations of the endocirne system.Results:Whole exon sequencing revealed a>2.45 Mb heterozygosity deletion in the 22 q11.21 region,which contained multiple genes such as TBX1.Combined with the clinical manifestations and thyroid function tests,the diagnosis of DGS complicated with hypothyroidism was made.Symptoms such as hypometabolism syndrome,underdevelopment and other symptoms in children were significantly improved after the replacement therapy with euthyrox.Conclusion:Evaluation of thyroid function should be emphasized in children with DGS.

关 键 词：DIGEORGE综合征 TBX1基因 甲状腺功能减低症 

分 类 号：R725.8[医药卫生—儿科]