台湾唐氏症儿童的甲状腺疾病：单一医疗中心的经验。
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center.
机构信息
Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taiwan.
Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taiwan.
出版信息
J Formos Med Assoc. 2020 Jan;119(1 Pt 2):345-349. doi: 10.1016/j.jfma.2019.06.003. Epub 2019 Jun 27.
BACKGROUND/PURPOSE: Thyroid disorders are common in children with Down syndrome (DS), however, such data have rarely been reported in Taiwanese children. This study presents our experience with the management of these children.
METHODS
Between 2006 and 2016, 51 children (31 boys and 20 girls) with DS were enrolled. Thyroid function was evaluated and natural course of thyroid status were analyzed.
RESULTS
Of 51 patients with DS, 2 had congenital hypothyroidism due to dyshormonogenesis. Of the remaining 49 patients, 30 (61%) had euthyroidism (EuT), and 19 (39%) had subclinical hypothyroidism (SH). Eighteen (37%) had detectable thyroid antibodies. It occurred at any age and the incidence was not affected by sex. The mean follow-up duration for 39 DS children was 3.8 ± 2.4 years. Of the 26 children who had EuT at enrollment and were followed up, 22 remained EuT, 2 developed SH, 1 developed overt hypothyroidism, and 1 developed overt hyperthyroidism. Of the 13 patients with SH who were followed up, 1 was treated for high thyroid-stimulating hormone levels, 8 became EuT, and 4 maintained SH status. Children with DS and persistent SH had significantly higher maximum thyroid-stimulating hormone levels during follow-up than did those with transient SH. Fluctuation in thyroid status during follow-up was not uncommon in children with DS.
CONCLUSION
The prevalence of thyroid disorders is higher in Taiwanese children with DS than in the general population. Because symptoms of hypothyroidism overlap those inherent to DS, regular follow-up of thyroid function in children with DS is indicated.
背景/目的：甲状腺疾病在唐氏综合征（Down syndrome，DS）患儿中较为常见，但此类数据在台湾地区儿童中鲜有报道。本研究介绍了我们对这些患儿的管理经验。
方法
2006 年至 2016 年，共纳入 51 例 DS 患儿（男 31 例，女 20 例）。评估甲状腺功能，并分析甲状腺功能状态的自然病程。
结果
51 例 DS 患儿中，2 例因甲状腺激素合成障碍导致先天性甲状腺功能减退症。余 49 例患儿中，30 例（61%）甲状腺功能正常（EuT），19 例（39%）为亚临床甲状腺功能减退症（SH）。18 例（37%）患儿甲状腺自身抗体阳性。抗体阳性可发生于任何年龄，且不受性别影响。39 例 DS 患儿的平均随访时间为 3.8±2.4 年。入组时 EuT 且随访的 26 例患儿中，22 例仍为 EuT，2 例发展为 SH，1 例发展为显性甲状腺功能减退症，1 例发展为显性甲状腺功能亢进症。随访的 13 例 SH 患儿中，1 例因高甲状腺刺激激素（thyroid-stimulating hormone，TSH）水平接受治疗，8 例转为 EuT，4 例仍为 SH。持续存在 SH 的 DS 患儿在随访期间的最大 TSH 水平显著高于一过性 SH 患儿。DS 患儿的甲状腺功能状态在随访期间波动并不少见。
结论
台湾地区 DS 患儿甲状腺疾病的患病率高于普通人群。由于甲状腺功能减退症的症状与 DS 固有症状重叠，因此建议对 DS 患儿定期随访甲状腺功能。
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