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Thyroid Dysfunction in Patients with Down Syndrome

唐氏症患者之甲狀腺功能異常

摘要


背景:為了解唐氏症病患,罹患甲狀腺機能異常之盛行率與其甲狀腺疾病之型態。我們針對台北市立陽明教養院內50位外觀健康之唐氏症患者,作前瞻性的甲狀腺機能篩檢。 方法:檢查項目包括血清T3、T4、Free T4、Free T4 index、TSH、Anti-Thyroid peroxidase與Anti-TSH receptor抗體。對照組是在本院做例行性體檢的212位外觀健康的員工。對照組與唐氏症組在年齡與性別上無統計學上之差異。但統計發現,唐氏症組較對照組有較高比例的TSH濃度異常(p=0.008)。 結果:50例中,有8位(16%)是臨床上無症狀之補償性甲狀腺機能低下症,有一例(2%)為甲狀腺機能亢進。甲狀腺自體抗體方面,Anti-TPO抗體陽性率為20%(13/50),而Anti-TSH receptor抗體陽性率為4%(2/50)。統計學上,血清TSH、anti-TPO與anti-TSH receptor抗體濃度在男女性別間,並無差異。Anti-TPO抗體陽性者,統計學上,其血清TSH上升的比例,並沒有較Anti-TPO陰性者來的高(p=0.3)。 結論:唐氏症有較高比例的甲狀腺機能異常,其中以補償性甲狀腺機能低下為最多。唐氏症患者其臨床症狀與甲狀腺機能低下症,有重疊之處,不容易區分。為了提升唐氏症患者之智能與生活品質,每年至少檢測一次甲狀腺機能是必要的。

並列摘要


Background: The close relationship between thyroid disorder and Down syndrome (DS) had been widely reported in the literature. The aim of this study was to assess the prevalence rate and the pattern of thyroid dysfunction in DS in Taiwan. Methods: A total of 50 Down syndrome (DS) patients from Yang-Ming Home for Disabled, were recruited. In all patients, serum T3, T4, free T4, TSH, thyroid peroxidase antibody (anti-TPO) and anti-TSH receptor antibody were measured. The control group consisted of 212 healthy adults who underwent routine health examination in this hospital. Results: Among 50 DS patients, 8 had subclinical hypothyroidism and one had hyperthyroidism. There was no statistically significant in gender and age between DS and control groups, however, TSH anomaly was significantly higher in the DS group (p=0.008). Regarding thyroid autoantibodies, anti-TPO was positive in 13 cases (26%) and anti-TSH receptor was positive in 2 cases (4%). Statistically, there was no significant difference in TSH anomaly (p=0.7), positive anti-TPO antibody (p=0.097) and positive anti-TSH receptor antibody (p=1.0) between males and females. The increased TSH levels had no statistically positive correlation with anti-TPO (p=0.386) or anti-TSH receptor antibody (p=1) in this study. The prevalence of thyroid dysfunction was 18% (9/50) in DS patients in Taiwan. Most of them showed subclinical compensated hypothyroidism (16%, 8/50), and one (2%, 1/50) showed hyperthyroidism. Conclusions: Thyroid dysfunction is common in DS patients, so periodic thyroid function tests should be performed and early treatment should be given to prevent further intellectual deterioration and improve overall development.

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