特纳综合征染色体核型与自身免疫性甲状腺疾病的相关性分析  

Analysis of correlation between Turner syndrome karyotype and autoimmune thyroid disease

作　　者：赵方圆 陈永花[1] 王卡娜[1] 王春林[1] ZHAO Fangyuan;CHEN Yonghua;WANG Kana;WANG Chunlin(Department of Pediatrics,The First Affiliated Hospital of Zhejiang University School of Medicine,Hangzhou 310003,Zhejiang,China)

机构地区：[1]浙江大学医学院附属第一医院儿科,浙江杭州310003

出　　处：《临床儿科杂志》2024年第1期70-74,共5页Journal of Clinical Pediatrics

基　　金：浙江省科技厅重点研发计划项目(No.2020C03121)。

摘　　要：目的探讨特纳综合征(TS)患儿不同染色体核型与自身免疫性甲状腺疾病(AITD)发生率及甲状腺功能的关系。方法回顾性收集93例特纳综合征患儿临床资料,分析AITD及甲状腺功能异常在各组染色体核型中的详细分布情况及二者之间的关联。结果93例特纳综合征患儿初诊时有21例(22.6%)合并AITD,其中17例甲状腺功能正常,1例亚临床甲状腺功能减退(甲减),1例临床甲减,2例甲状腺功能亢进(甲亢)。21例AITD患儿在中位时间间隔3年定期复查,以评估甲状腺功能状态随时间的变化,其中10例甲状腺功能正常,4例亚临床甲减,3例临床甲减,4例甲亢。AITD组按照核型被分为3个亚组(A 1亚组8例45,X染色体单体、A2亚组1例嵌合体型及A3组12例X染色体结构异常),随访结束时,各组的甲状腺功能异常的发生率随时间推移明显增加。结论特纳综合征患儿随着时间的推移甲状腺功能出现逐步恶化,并且AITD初诊时年龄越大,甲状腺功能恶化发生率越高。特纳综合征患者需要定期监测甲状腺功能并及时处置。Objective To investigate the relationship between different chromosome karyotypes and the incidence of autoimmune thyroid disease(AITD)and thyroid function in children with Turner syndrome(TS).Methods A total of 93 children with TS diagnosed by chromosome karyotype since 2013 were analyzed.The detailed distribution of AITD and abnormal thyroid function in each group of chromosome karyotypes and the correlation between them were analyzed.Results Of the 93 children with TS,21(22.6%)had AITD at initial diagnosis,of whom 17 had normal thyroid function,1 had subclinical hypothyroidism,1 had clinical hypothyroidism,and 2 had hyperthyroidism.In addition,21 children with AITD were regularly reviewed at a median interval of 3 years to evaluate the change of thyroid function status over time.Among them,10 patients had normal thyroid function,4 had subclinical hypothyroidism,3 had clinical hypothyroidism,and 4 had hyperthyroidism.The AITD group was divided into 3 subgroups according to karyotype(8 cases of 45,X chromosome monomer in subgroup A1,1 case of chimeric type in subgroup A2 and 12 cases of X chromosome structural abnormality in subgroup A 3).At the end of follow-up,the incidence of thyroid dysfunction in each group increased significantly over time.Conclusions Thyroid function deteriorates progressively over time in children with Turner syndrome.The older the age at first diagnosis of AITD,the higher the incidence of thyroid deterioration.Patients with Turner syndrome need regular monitoring of thyroid function and prompt treatment.

关 键 词：TURNER综合征 染色体核型 甲状腺自身抗体 儿童 

分 类 号：R725.9[医药卫生—儿科]