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Health supervision for children with Down syndrome.对唐氏综合征患儿的健康监督。
Pediatrics. 2011 Aug;128(2):393-406. doi: 10.1542/peds.2011-1605. Epub 2011 Jul 25.
2
Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006.2004 - 2006年美国部分出生缺陷的最新全国出生患病率估计
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Increase in incidence of medically treated thyroid disease in children with Down Syndrome after rerelease of American Academy of Pediatrics Health Supervision guidelines.美国儿科学会健康监督指南重新发布后,唐氏综合征患儿接受医学治疗的甲状腺疾病发病率上升。
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Increase in congenital hypothyroidism in New York State and in the United States.纽约州及美国先天性甲状腺功能减退症发病率上升。
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Down syndrome and thyroid dysfunction: should nutritional support be the first-line treatment?
Med Hypotheses. 2007;69(4):809-15. doi: 10.1016/j.mehy.2007.01.068. Epub 2007 Mar 26.
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Trisomy 21 causes persistent congenital hypothyroidism presumably of thyroidal origin.21三体综合征会导致可能源于甲状腺的持续性先天性甲状腺功能减退症。
Thyroid. 2006 Jul;16(7):671-80. doi: 10.1089/thy.2006.16.671.
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Longitudinal study of thyroid function in Down's syndrome in the first two decades.唐氏综合征头二十年甲状腺功能的纵向研究
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The effect of thyroxine treatment started in the neonatal period on development and growth of two-year-old Down syndrome children: a randomized clinical trial.新生儿期开始的甲状腺素治疗对两岁唐氏综合征儿童发育和生长的影响:一项随机临床试验。
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Hypothyroidism in Down syndrome: screening guidelines and testing methodology.唐氏综合征中的甲状腺功能减退:筛查指南与检测方法
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重新审视唐氏综合征婴儿的早期甲状腺功能减退筛查。

Revisiting early hypothyroidism screening in infants with Down syndrome.

作者信息

Purdy I B, Singh N, Brown W L, Vangala S, Devaskar U P

机构信息

Division of Neonatology, Department of Pediatrics, David Geffen School of Medicine at UCLA, Mattel Children's Hospital, University of California, Los Angeles, Los Angeles, CA, USA.

1] Division of Neonatology, Department of Pediatrics, David Geffen School of Medicine at UCLA, Mattel Children's Hospital, University of California, Los Angeles, Los Angeles, CA, USA [2] Department of Medicine Statistics Core, David Geffen School of Medicine at UCLA,  Mattel Children's Hospital, University of California, Los Angeles, Los Angeles, CA, USA.

出版信息

J Perinatol. 2014 Dec;34(12):936-40. doi: 10.1038/jp.2014.116. Epub 2014 Jun 19.

DOI:10.1038/jp.2014.116
PMID:24945161
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4255086/
Abstract

OBJECTIVE

To identify if the incidence of hypothyroidism in infants with Down syndrome is higher than previous childhood estimates (15%) when examined prior to the standard retesting at 6 months of age.

STUDY DESIGN

A retrospective observational cohort study of 122 children with Down syndrome admitted to a university-based birthing hospital between May 2000 and March 2012. Demographic data (for example, date of birth, gender, gestational age, inborn) and diagnostic data (Down syndrome, congenital heart disease and gastrointestinal disease) were cross-linked with thyroid hormone laboratory tests (total thyroxine, free thyroxine and thyroid stimulating hormone) to determine incidence of identified hypothyroidism and thyroid testing prior to 4 months of age (n=80).

RESULT

In all, 32.5% were found to have any hypothyroidism. Of these, 14 were primary hypothyroidism (17.5%) needing supplemental T4 therapy, 12 were compensated hypothyroidism (15%) and euthyroid was identified in 54 infants (67.5%).

CONCLUSION

Despite normal newborn screens, the incidence of any hypothyroidism (early compensated hypothyroidism and primary hypothyroidism) was higher than previously reported.

摘要

目的

确定唐氏综合征婴儿在6个月标准复查之前接受检查时,甲状腺功能减退症的发病率是否高于先前儿童期的估计值(15%)。

研究设计

一项回顾性观察队列研究,研究对象为2000年5月至2012年3月间入住一所大学附属医院的122名唐氏综合征患儿。将人口统计学数据(如出生日期、性别、胎龄、是否为顺产)和诊断数据(唐氏综合征、先天性心脏病和胃肠道疾病)与甲状腺激素实验室检查结果(总甲状腺素、游离甲状腺素和促甲状腺激素)进行交叉关联,以确定4个月龄前确诊的甲状腺功能减退症的发病率以及甲状腺检查情况(n = 80)。

结果

总共发现32.5%的患儿患有某种甲状腺功能减退症。其中,14例为原发性甲状腺功能减退症(17.5%),需要补充甲状腺素治疗;12例为代偿性甲状腺功能减退症(15%);54例婴儿甲状腺功能正常(67.5%)。

结论

尽管新生儿筛查结果正常,但任何甲状腺功能减退症(早期代偿性甲状腺功能减退症和原发性甲状腺功能减退症)的发病率均高于先前报道。