唐氏综合征患者的甲状腺疾病：最新进展
Thyroid Disorders in Subjects with Down Syndrome: An Update.
作者信息
Amr Nermine H
机构信息
Department of Paediatrics Ain Shams University, Cairo, Egypt.
出版信息
Acta Biomed. 2018 Mar 27;89(1):132-139. doi: 10.23750/abm.v89i1.7120.
Abstract
Down syndrome (DS) is the commonest chromosomal disorder among live born infants. DS is associated with increased risk of endocrine abnormalities particularly thyroid gland disorders. The spectrum of thyroid dysfunction in patients with DS include congenital hypothyroidism, subclinical hypothyroidism, acquired hypothyroidism (autoimmune - non autoimmune), and hyperthyroidism. This review will focus on the characteristics of the different presentations of thyroid abnormalities in DS, screening and management recommendations.
摘要
唐氏综合征（DS）是活产婴儿中最常见的染色体疾病。DS与内分泌异常风险增加相关，尤其是甲状腺疾病。DS患者的甲状腺功能障碍谱包括先天性甲状腺功能减退、亚临床甲状腺功能减退、后天性甲状腺功能减退（自身免疫性 - 非自身免疫性）和甲状腺功能亢进。本综述将聚焦于DS中甲状腺异常不同表现的特征、筛查及管理建议。
相似文献
1
Thyroid Disorders in Subjects with Down Syndrome: An Update.唐氏综合征患者的甲状腺疾病：最新进展
Acta Biomed. 2018 Mar 27;89(1):132-139. doi: 10.23750/abm.v89i1.7120.
2
Prospective study of thyroid function in the first year of life in infants with Down syndrome.唐氏综合征婴儿生命第一年甲状腺功能的前瞻性研究。
Eur J Pediatr. 2023 Jun;182(6):2903-2911. doi: 10.1007/s00431-023-04954-w. Epub 2023 Apr 15.
3
Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome.唐氏综合征患儿先天性心脏病和甲状腺异常的评估。
Anadolu Kardiyol Derg. 2010 Oct;10(5):440-5. doi: 10.5152/akd.2010.143.
4
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.唐氏综合征患者的甲状腺功能障碍：一项多机构登记研究的结果。
Am J Med Genet A. 2017 Jun;173(6):1539-1545. doi: 10.1002/ajmg.a.38219. Epub 2017 Mar 23.
5
Thyroid dysfunction in children with Down syndrome: a literature review.唐氏综合征儿童的甲状腺功能障碍：文献综述。
Ir J Med Sci. 2014 Mar;183(1):1-6. doi: 10.1007/s11845-013-0994-y. Epub 2013 Aug 10.
6
Goiter, immunological observations, and thyroid function tests in Down syndrome.唐氏综合征中的甲状腺肿、免疫学观察及甲状腺功能测试
Am J Dis Child. 1974 Apr;127(4):524-7. doi: 10.1001/archpedi.1974.02110230070010.
7
Down syndrome and thyroid function.唐氏综合征与甲状腺功能。
Endocrinol Metab Clin North Am. 2012 Dec;41(4):735-45. doi: 10.1016/j.ecl.2012.08.008.
8
Thyroid function in Kuwaiti subjects with Down's syndrome.科威特唐氏综合征患者的甲状腺功能。
Med Princ Pract. 2002 Oct-Dec;11(4):206-9. doi: 10.1159/000065807.
9
Abnormalities of thyroid function in infants with Down syndrome.唐氏综合征婴儿的甲状腺功能异常。
J Pediatr. 1984 Apr;104(4):545-9. doi: 10.1016/s0022-3476(84)80544-2.
10
Down Syndrome and thyroid gland.唐氏综合征与甲状腺
Bosn J Basic Med Sci. 2006 Aug;6(3):38-42. doi: 10.17305/bjbms.2006.3142.
引用本文的文献
1
Association Between Hypothyroidism and Depression in Individuals with Down Syndrome: A Retrospective Analysis.唐氏综合征患者甲状腺功能减退与抑郁之间的关联：一项回顾性分析。
Life (Basel). 2025 Jul 28;15(8):1199. doi: 10.3390/life15081199.
2
Cerebral/Cortical visual impairment (CVI) in Down syndrome: a case series.唐氏综合征中的脑性/皮质性视觉障碍：病例系列
Front Hum Neurosci. 2025 Jul 11;19:1563420. doi: 10.3389/fnhum.2025.1563420. eCollection 2025.
3
The Connection Between Socioeconomic Factors and Dietary Habits of Children with Down Syndrome in Croatia.克罗地亚唐氏综合征患儿的社会经济因素与饮食习惯之间的联系。
Foods. 2025 May 28;14(11):1910. doi: 10.3390/foods14111910.
4
Choroidal and retinal vascular changes in adults with Down syndrome: Insights into the Alzheimer's disease continuum.唐氏综合征成年患者的脉络膜和视网膜血管变化：对阿尔茨海默病连续体的见解。
Alzheimers Dement. 2025 May;21(5):e70228. doi: 10.1002/alz.70228.
5
Association of the thyroid hormone sensitivity index with triglycerides in adolescents: a cross-sectional study.青少年甲状腺激素敏感性指数与甘油三酯的关联：一项横断面研究。
Hormones (Athens). 2025 Mar 21. doi: 10.1007/s42000-025-00645-3.
6
Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.原发性先天性甲状腺功能减退症的遗传学：三十年的发现与持续存在的病因挑战
Eur Thyroid J. 2025 Mar 28;14(2). doi: 10.1530/ETJ-24-0348. Print 2025 Apr 1.
7
A Comparison of Commonly Used Prediction Equations for Estimating Resting Metabolic Rate in Adults With Down Syndrome.用于估计唐氏综合征成人静息代谢率的常用预测方程比较。
J Intellect Disabil Res. 2025 May;69(5):428-436. doi: 10.1111/jir.13215. Epub 2025 Feb 8.
8
JAK inhibition decreases the autoimmune burden in Down syndrome.JAK抑制可减轻唐氏综合征中的自身免疫负担。
Elife. 2024 Dec 31;13:RP99323. doi: 10.7554/eLife.99323.
9
The natural course of newborns with transient congenital hypothyroidism.新生儿暂时性先天性甲状腺功能减退症的自然病程。
Endocr Connect. 2024 Nov 21;13(12). doi: 10.1530/EC-24-0316. Print 2024 Dec 1.
10
JAK inhibition in Down Syndrome Regression Disorder.JAK 抑制治疗唐氏综合征退行性障碍。
J Neuroimmunol. 2024 Oct 15;395:578442. doi: 10.1016/j.jneuroim.2024.578442. Epub 2024 Aug 22.
本文引用的文献
1
Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome
.一大群唐氏综合征患儿甲状腺异常的特征分析
Horm Res Paediatr. 2017;87(3):170-178. doi: 10.1159/000457952. Epub 2017 Mar 3.
2
Endocrine Autoimmunity in Down's Syndrome.唐氏综合征中的内分泌自身免疫
Front Horm Res. 2017;48:133-146. doi: 10.1159/000452912. Epub 2017 Feb 28.
3
Radioactive Iodine-131 as a Definitive Treatment in Rare Association of Down Syndrome With Hyperthyroidism: A Case Report and Review of Literature.放射性碘-131作为唐氏综合征合并甲状腺功能亢进罕见关联的确定性治疗：一例报告及文献综述
Indian J Nucl Med. 2017 Jan-Mar;32(1):19-24. doi: 10.4103/0972-3919.198458.
4
Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome.基于甲状腺素的唐氏综合征新生儿先天性甲状腺功能减退症筛查
J Pediatr. 2016 Jun;173:165-8. doi: 10.1016/j.jpeds.2016.02.039. Epub 2016 Mar 16.
5
Metamorphic thyroid autoimmunity in Down Syndrome: from Hashimoto's thyroiditis to Graves' disease and beyond.唐氏综合征中的甲状腺自身免疫性病变：从桥本甲状腺炎到格雷夫斯病及其他。
Ital J Pediatr. 2015 Nov 11;41:87. doi: 10.1186/s13052-015-0197-4.
6
Oxidative stress, thyroid dysfunction & Down syndrome.氧化应激、甲状腺功能障碍与唐氏综合征。
Indian J Med Res. 2015 Aug;142(2):113-9. doi: 10.4103/0971-5916.164218.
7
Peculiarities of presentation and evolution over time of Hashimoto's thyroiditis in children and adolescents with Down's syndrome.唐氏综合征儿童和青少年桥本甲状腺炎的临床表现特点及随时间的演变
Hormones (Athens). 2015 Jul-Sep;14(3):410-6. doi: 10.14310/horm.2002.1574.
8
Clinical profile and main comorbidities of Spanish adults with Down syndrome.西班牙唐氏综合征成年患者的临床特征及主要合并症。
Eur J Intern Med. 2015 Jul;26(6):385-91. doi: 10.1016/j.ejim.2015.05.003. Epub 2015 May 27.
9
Peculiarities of autoimmune thyroid diseases in children with Turner or Down syndrome: an overview.特纳综合征或唐氏综合征患儿自身免疫性甲状腺疾病的特点：综述
Ital J Pediatr. 2015 May 15;41:39. doi: 10.1186/s13052-015-0146-2.
10
Down syndrome and nonautoimmune hypothyroidisms in neonates and infants.
Horm Res Paediatr. 2015;83(2):126-31. doi: 10.1159/000370004. Epub 2015 Jan 9.
Zotero 插件