Mıhçı Ercan, Akçurin Gayaz, Eren Erdal, Kardelen Fırat, Akçurin Sema, Keser Ibrahim, Ertuğ Halil
Division of Clinical Genetics, Department of Pediatrics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
Anadolu Kardiyol Derg. 2010 Oct;10(5):440-5. doi: 10.5152/akd.2010.143.
Congenital heart disease (CHD) associated with thyroid disease has been reported in Down syndrome (DS). The purpose of this work was to assess abnormalities of the thyroid in relation to the frequency and type of CHD on admission among children with DS.
This retrospective study included 187 children with DS between August 1993- December 2005. Karyotype analysis, thyroid function tests and echocardiographic studies were performed in all children with DS. If necessary, hemodynamic study by catheterization was carried out. Thyrotropin releasing hormone (TRH) stimulation test was performed in having elevated thyroid stimulating hormone (TSH) level. Statistical analyses were performed using Chi-square, "t" test for independent samples or Mann-Whitney U test.
It was found that 136 (72.73%) patients with DS had CHD. The age difference at the time of admission was statistically significant for these two groups (p=0.001) in children with /without CHD. There were 12 (11.88%) patients with congenital hypothyroidism and DS, of whom 11 had CHD. There were statistically significant differences in the levels of TSH and total thyroxine (tT4) between congenital and subclinical hypothyroid and euthyroid groups (p=0.001 for TSH and p= 0.001 for tT4). But, there was no significant relationship between having any kind of CHD and levels of TSH and tT4.
Our data suggest that all patients with DS should be evaluated with careful physical and echocardiographic examination on admission. In addition, congenital or subclinical hypothyroidism should also be kept in mind in children with DS and monitored accordingly.
唐氏综合征（DS）患儿中已报道有先天性心脏病（CHD）合并甲状腺疾病。本研究旨在评估DS患儿入院时甲状腺异常与CHD的发生率及类型之间的关系。
本回顾性研究纳入了1993年8月至2005年12月期间的187例DS患儿。对所有DS患儿进行了核型分析、甲状腺功能检查和超声心动图检查。必要时，进行心导管血流动力学研究。对促甲状腺激素（TSH）水平升高的患儿进行促甲状腺激素释放激素（TRH）刺激试验。采用卡方检验、独立样本“t”检验或曼-惠特尼U检验进行统计学分析。
发现136例（72.73%）DS患儿患有CHD。患有/未患有CHD的两组患儿入院时的年龄差异具有统计学意义（p = 0.001）。有12例（11.88%）先天性甲状腺功能减退症合并DS的患儿，其中11例患有CHD。先天性甲状腺功能减退症组、亚临床甲状腺功能减退症组和甲状腺功能正常组之间的TSH和总甲状腺素（tT4）水平存在统计学差异（TSH p = 0.001，tT4 p = 0.001）。但是，患有任何类型的CHD与TSH和tT4水平之间没有显著关系。
我们的数据表明，所有DS患儿入院时均应进行仔细的体格检查和超声心动图检查。此外，DS患儿还应考虑先天性或亚临床甲状腺功能减退症，并进行相应的监测。
