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目的特纳综合征(Turner Syndrome,TS)患者合并自身免疫性甲状腺病((Autoimmune Thyroid Disease,AITD)发病率较高,本研究目的是分析44例TS患者不同染色体核型与AITD发病率及甲状腺功能的关系。方法对中国医科大学附属一院2005年以来44例TS患者进行染色体核型分析,甲状腺自身抗体包括抗甲状腺过氧化物酶抗体(TPOAb)及抗甲状腺球蛋白抗体(TgAb)检测。结果 44例TS患者中17例(38.6%)合并AITD。核型为X染色体长臂或短臂等臂(包括46,Xi(Xq);46,Xi(Xp))的12例患者有9例(75%)合并AITD,其中58.3%为甲减;核型为X染色体的短臂或长臂缺失(包括46,X,del(Xp);46,X,del(Xq))的2例患者有1例(50%)合并AITD,其中50%为甲减。结论 TS患者易合并AITD,且染色体核型与AITD的发生有关,核型为X染色体异常(X染色体长臂或短臂等臂;X染色体长臂或短臂缺失)的TS患者合并AITD更多见,且合并AITD后更易发生甲状腺功能减退。
Objective To investigate the association between the incidence of AITD and thyroid in patients with TS (Turner Syndrome, TS) Function.Methods Genomic analysis of 44 TS patients from the First Affiliated Hospital of China Medical University from 2005 to 2005 was performed to detect thyroid autoantibodies including anti-thyroid peroxidase antibody (TPOAb) and anti-thyroglobulin antibody (TgAb). Results Of 44 TS patients, 17 cases (38.6%) were complicated with AITD. There were 9 patients with Karyotype (including 46, Xi (Xq); 46, Xi (Xp) (75%) with AITD, of which 58.3% were hypothyroid; 2 patients with karyotype with short arm or long arm deletion of X chromosome (including 46, X and del (Xp); 46, X, del One case (50%) had AITD, of which 50% were hypothyroidism.Conclusion TS patients are susceptible to AITD, and the karyotypes are related to the development of AITD. The karyotype is X chromosome abnormality (arm of X chromosome or arm ; X chromosome missing long or short arm) TS patients with AITD more common, and combined with AITD more prone to hypothyroidism.