Pierce Melinda J, LaFranchi Stephen H, Pinter Joseph D
Horm Res Paediatr. 2017;87(3):170-178. doi: 10.1159/000457952. Epub 2017 Mar 3.
BACKGROUND/AIMS: Thyroid disease is a common comorbidity in individuals with Down syndrome (DS), but historical studies have multiple limitations. We assessed thyroid abnormalities in a large cohort of children with DS.
Retrospective records review from a single institution. Calculated prevalence of common thyroid abnormalities and associations with common comorbidities.
Among 508 patients, 120 (24%) had a thyroid-related diagnosis, the majority having elevated thyrotropin treated with levothyroxine. A Kaplan-Meier estimate projects that 50% have thyroid disorder by adulthood, with 20% of hypothyroidism diagnosed before the age of 6 months. When tested, approximately 50% had positive antithyroid antibodies, though this rate was 100% in overt hypothyroidism. There was no association between congenital or acquired hypothyroidism and common comorbidities.
CONCLUSION: Thyroid disease in DS is more common and occurs earlier than in the general population, and is often transient. Thyroid disease is unrelated to gender, obesity, or other comorbidities. Apart from overt hypothyroidism, much of hypothyroidism in DS appears unrelated to autoimmunity; we recommend checking of antithyroid antibodies only in select cases. An additional screen for thyroid disease between the newborn screen and the 6-month well-child visit will detect early cases of hypothyroidism who passed their newborn screen. .
背景/目的：甲状腺疾病是唐氏综合征（DS）患者常见的合并症，但既往研究存在多种局限性。我们评估了一大群DS儿童的甲状腺异常情况。
对来自单一机构的记录进行回顾性分析。计算常见甲状腺异常的患病率以及与常见合并症的关联。
在508例患者中，120例（24%）有甲状腺相关诊断，大多数患者促甲状腺素升高，接受左甲状腺素治疗。根据Kaplan-Meier估计，50%的患者到成年时会出现甲状腺疾病，其中20%的甲状腺功能减退症在6个月前被诊断出来。检测时，约50%的患者抗甲状腺抗体呈阳性，不过在显性甲状腺功能减退症患者中这一比例为100%。先天性或获得性甲状腺功能减退症与常见合并症之间无关联。
DS患者的甲状腺疾病比普通人群更常见且发病更早，并且通常是短暂性的。甲状腺疾病与性别、肥胖或其他合并症无关。除了显性甲状腺功能减退症外，DS患者的大部分甲状腺功能减退症似乎与自身免疫无关；我们建议仅在特定病例中检测抗甲状腺抗体。在新生儿筛查和6个月健康儿童访视之间增加一次甲状腺疾病筛查，将能检测出通过新生儿筛查的甲状腺功能减退症早期病例。
