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Zhongguo Dang Dai Er Ke Za Zhi. 2021 Nov 15;23(11):1075-1079. doi: 10.7499/j.issn.1008-8830.2106051.
2
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.先天性甲状腺功能减退症：2020-2021 年共识指南更新——一项由 ENDO-欧洲参考网络倡议发起并得到欧洲儿科内分泌学会和欧洲内分泌学会认可的倡议。
Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333.
3
Screening, diagnosis and management of congenital hypothyroidism: European Society for Paediatric Endocrinology Consensus Guideline.先天性甲状腺功能减退症的筛查、诊断与管理：欧洲儿科内分泌学会共识指南
Arch Dis Child Educ Pract Ed. 2015 Oct;100(5):260-3. doi: 10.1136/archdischild-2014-307738. Epub 2015 Mar 16.
4
Guidelines for neonatal screening programmes for congenital hypothyroidism. Working group on congenital hypothyroidism of the European Society for Paediatric Endocrinology.先天性甲状腺功能减退症新生儿筛查项目指南。欧洲儿科内分泌学会先天性甲状腺功能减退症工作组。
Eur J Pediatr. 1993 Dec;152(12):974-5. doi: 10.1007/BF01957217.
5
Guidelines for neonatal screening programs for congenital hypothyroidism. European Society for Pediatric Endocrinology Working Group on Congenital Hypothyroidism.先天性甲状腺功能减退症新生儿筛查项目指南。欧洲儿科内分泌学会先天性甲状腺功能减退症工作组。
Horm Res. 1994;41(1):1-2. doi: 10.1159/000183868.
6
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.欧洲儿科内分泌学会关于先天性甲状腺功能减退症筛查、诊断和管理的共识指南
Horm Res Paediatr. 2014;81(2):80-103. doi: 10.1159/000358198. Epub 2014 Jan 21.
7
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.欧洲儿科内分泌学会关于先天性甲状腺功能减退症筛查、诊断和管理的共识指南。
J Clin Endocrinol Metab. 2014 Feb;99(2):363-84. doi: 10.1210/jc.2013-1891. Epub 2014 Jan 21.
8
Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part I: Screening and Confirmation of Diagnosis.《印度先天性甲状腺功能减退症新生儿筛查指南：印度儿科学和青少年内分泌学会（ISPAE）的建议》——第一部分：筛查和诊断确认。
Indian J Pediatr. 2018 Jun;85(6):440-447. doi: 10.1007/s12098-017-2575-y. Epub 2018 Jan 30.
9
Screening and Management of Congenital Hypothyroidism - Guidelines by American Academy of Pediatrics, 2023.美国儿科学会 2023 年先天性甲状腺功能减退症筛查和管理指南。
Indian Pediatr. 2023 Oct 15;60(10):855-858.
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Revised guidelines for neonatal screening programmes for primary congenital hypothyroidism. Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology.原发性先天性甲状腺功能减退症新生儿筛查项目修订指南。欧洲儿科内分泌学会新生儿筛查工作组。
Horm Res. 1999;52(1):49-52. doi: 10.1159/000023433.

引用本文的文献

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Association between maternal hypothyroidism, baby birth weight, and adult cardiovascular disease risk: insights from ECG measurements.母亲甲状腺功能减退、婴儿出生体重与成人心血管疾病风险之间的关联：心电图测量的见解
Int J Clin Exp Pathol. 2024 Aug 15;17(8):257-266. doi: 10.62347/TJQW7926. eCollection 2024.
2
Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China.中国云南永久性先天性甲状腺功能减退症患儿的基因突变。
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Jun 25;51(3):306-313. doi: 10.3724/zdxbyxb-2022-0199.

本文引用的文献

1
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.先天性甲状腺功能减退症：2020-2021 年共识指南更新——一项由 ENDO-欧洲参考网络倡议发起并得到欧洲儿科内分泌学会和欧洲内分泌学会认可的倡议。
Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333.
2
Graves' disease complicated by fetal goitrous hypothyroidism treated with intra-amniotic administration of levothyroxine.格雷夫斯病合并胎儿甲状腺肿性甲状腺功能减退症，采用羊膜腔内注射左甲状腺素治疗。
BMJ Case Rep. 2019 Aug 15;12(8):e230457. doi: 10.1136/bcr-2019-230457.
3
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?新生儿先天性甲状腺功能减退症筛查：从不一致的双胞胎身上我们能学到什么？
J Clin Endocrinol Metab. 2019 Dec 1;104(12):5765-5779. doi: 10.1210/jc.2019-00900.
4
Evaluation and management of the child with hypothyroidism.儿童甲状腺功能减退症的评估和管理。
World J Pediatr. 2019 Apr;15(2):124-134. doi: 10.1007/s12519-019-00230-w. Epub 2019 Feb 8.
5
The diagnosis and management of central hypothyroidism in 2018.2018年中枢性甲状腺功能减退症的诊断与管理
Endocr Connect. 2019 Feb;8(2):R44-R54. doi: 10.1530/EC-18-0515.
6
Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation.早产儿先天性甲状腺功能减退症重复新生儿筛查以检测延迟促甲状腺激素升高的最佳时机。
J Pediatr. 2019 Feb;205:77-82. doi: 10.1016/j.jpeds.2018.09.044. Epub 2018 Oct 24.
7
2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism.2018年欧洲甲状腺协会（ETA）关于中枢性甲状腺功能减退症诊断和管理的指南。
Eur Thyroid J. 2018 Oct;7(5):225-237. doi: 10.1159/000491388. Epub 2018 Jul 19.
8
A Review of the Pharmacokinetics of Levothyroxine for the Treatment of Hypothyroidism.左甲状腺素治疗甲状腺功能减退症的药代动力学综述。
Eur Endocrinol. 2013 Mar;9(1):40-47. doi: 10.17925/EE.2013.09.01.40. Epub 2013 Mar 15.
9
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives.内分泌疾病的诊断：先天性甲状腺功能减退症：更新与展望。
Eur J Endocrinol. 2018 Dec 1;179(6):R297-R317. doi: 10.1530/EJE-18-0383.
10
Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds.新生儿先天性甲状腺功能减退症筛查：不同 TSH 阈值下的检测性能评估。
J Clin Endocrinol Metab. 2018 Oct 1;103(10):3720-3728. doi: 10.1210/jc.2018-00658.

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机构信息

Department of Pediatrics, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu 610072, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2021 Nov 15;23(11):1075-1079. doi: 10.7499/j.issn.1008-8830.2106051.

DOI:10.7499/j.issn.1008-8830.2106051
PMID:34753537
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8580028/
Abstract

Congenital hypothyroidism is one of the common diseases causing delayed intelligence development and growth retardation in children. In 2021, the ENDO-European Reference Network updated the practice guidelines for the diagnosis and management of congenital hypothyroidism. The guidelines give a comprehensive and detailed description of the screening, diagnosis, and management of congenital hypothyroidism in neonates. This article gives an interpretation of the guidelines in order to provide a reference for clinicians in China.

摘要

先天性甲状腺功能减退症是导致儿童智力发育迟缓、生长发育迟缓的常见疾病之一。2021 年，ENDO-欧洲参考网络更新了先天性甲状腺功能减退症的诊断和管理实践指南。该指南对新生儿先天性甲状腺功能减退症的筛查、诊断和管理进行了全面、详细的描述。本文对该指南进行了解读，以期为我国临床医生提供参考。