Individuals with Down syndrome (DS) present increased risk for thyroid dysfunction, especially hypothyroidism, due in increased expression of the DYRK1A gene. Objective: The aim of this study was to make a morphological functional thyroid assessment in individuals with DS. Materials and Methods: This is a descriptive cross-sectional study, consisting of 29 individuals with DS, with a mean age of 12,3 (0.66 / 36.00) years, 16 women (55.2%) and 13 men (44.8%), with a morphological/functional thyroid assessment being made comprising hormonal dose (Free T4, TSH), antithyroid antibody (TPOAb and TgAb) and ultrasonography of the thyroid. Results: Twenty-three (79.3%) individuals presented normal thyroid function while 6 (20.7%) presented with thyroid dysfunction, 4 with hypothyroidism and 2 with hyperthyroidism. Autoimmune thyroiditis and goiter were present in 27.6% of the individuals. Conclusion: Thyroid function should be assessed periodically in individuals with DS, in view of the high prevalence of thyroid dysfunction, especially autoimmune thyroiditis with consequent hypothyroidism. Key Words: Down Syndrome, thyroid, ultrasonography, thyroid dysfunction.

中文翻译：

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唐氏综合症患者甲状腺的形态和功能评估

由于DYRK1A基因表达增加，患有唐氏综合症（DS）的个体出现甲状腺功能异常（尤其是甲状腺功能低下）的风险增加。目的：本研究的目的是对DS患者进行甲状腺功能形态学评估。材料和方法：这是一项描述性横断面研究，由29名DS个体组成，平均年龄为12,3（0.66 / 36.00）岁，其中16名女性（55.2％）和13名男性（44.8％），进行甲状腺的形态/功能甲状腺评估，包括激素剂量（游离T4，TSH），抗甲状腺抗体（TPOAb和TgAb）和甲状腺超声检查。结果：二十三名（79.3％）的人的甲状腺功能正常，而六名（20.7％）的人的甲状腺功能不全，甲状腺功能低下的人4名，甲状腺功能亢进的2人。自身免疫性甲状腺炎和甲状腺肿的发生率为27.6％。结论：鉴于甲状腺功能障碍的患病率很高，尤其是自身免疫性甲状腺炎伴有甲状腺功能减退，应定期评估DS患者的甲状腺功能。关键词：唐氏综合症，甲状腺，超声检查，甲状腺功能障碍。