55例Turner综合征患儿甲状腺异常临床分析

Clinical analysis of thyroid abnormalities in 55 children with Turner syndrome

目的观察Turner综合征（TS）患儿甲状腺异常的发生率、甲状腺自身抗体阳性与甲状腺功能异常及与年龄、核型之间的关系。方法对55例经染色体分析确诊的TS患儿，采用化学发光法检测血清甲状腺功能及甲状腺自身抗体（TAA），将患儿分为TAA阳性组与TAA阴性组。结果检出TAA阳性21例（38．2％），TAA阳性患者中甲状腺功能异常10例，其中7例为甲状腺功能低下，3例为甲状腺功能亢进。34例TAA阴性患儿检测甲状腺功能均正常。TAA阳性组与TAA阴性组年龄分别为（12．16±2．55）岁及（9．95±4．50）岁（P〈0．05），其中6例0-5岁患儿无1例出现TAA阳性，5．10岁TAA阳性比例为31．3％（5／16），而10-15岁及15岁以上2组TAA的阳性比例分别为48．1％（13／27）和50．0％（3／6）。TS各种核型之间TAA阳性例数差异无统计学意义（P〉0．05）。结论5岁后TS患儿容易并发桥本甲状腺炎导致甲状腺功能异常，应定期检测TAA及甲状腺功能。TS患儿发生桥本甲状腺炎与其染色体核型类型无关。

Objective Turner syndrome （TS） is characterized with reduced adult height and gonadal dysgenesis and associated with a number of complications including thyroid disease. The purpose of this study was to investigate the prevalence of thyroid diseases and the association between thyroid autoantibodies （TAA） and thyroid dysfunction, age, and karyotype. Methods Fifty-five girls with TS were diagnosed by chromosome analyses and were divided into 2 groups according to whether there was TAA-positive or not： TAA-positive group and TAA-negative group. Thyroid autoantibodies （ antithyroglobulin antibody, thyroperoxidase antibody ） , thyroid function （ free T3 , free T4, and TSH） were determined with immunochemiluminescent. Ultrasound was applied in TAA-positive group. Results Thyroid functions in 34 TAA-negative girls were normal. Of the 21 TAA-positive girls （ 21/55, 38.2% ） , 7 girls suffered from hypothyroidism and 3 girls had hyperthyroidism. All of 21 TAA-positive girls were diagnosed as cases of Hashimoto＇s thyroiditis. As compared with the girls in TAA-negative group, the age of girls in TAA-positive group was significantly higher [ （ 12.16±2.55 vs 9.95 ±4.50）years,P〈0.05]. 6 cases under 5 years old were TAA-negative. 31.3% （5/16） of patients aged 5-10 years old, 48.1% （ 13/27 ） aged 10-15 years old and 50.0% （3/6） above the age of 15 were TAA-positive. There were no significant differences in the numbers of TAA- positive cases among different karyotypes （ P 〉 0.05 ）. Thyroid ultrasound in girls with positive-TAA showed the abnormal echogenicity in bilateral lobus lateralis of thyroid. Conclusion Patients with TS are prone to suffer from Hashimoto＇s thyroiditis leading to thyroid dysfunction, when they are older than 5 years. Thyroid function should be evaluated yearly in girls with TS after 5 years old. There is no specific association between the incidence of autoimmune thyroid disease and certain karyotypes.