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["先天性甲状腺功能减退症»临床指南"]

[Clinical guideline of «congenital hypothyroidism»].

作者信息

Peterkova V A, Bezlepkina O B, Shiryaeva T U, Vadina T A, Nagaeva E V, Chikulaeva O A, Shreder E V, Konuhova M B, Makretskaya N A, Shestopalova E A, Mitkina V B

机构信息

Endocrinology Research Center.

Moscow Neonatal screening center, Morozovskaya Children's Hospital.

出版信息

Probl Endokrinol (Mosk). 2022 Feb 17;68(2):90-103. doi: 10.14341/probl12880.

DOI:10.14341/probl12880
PMID:35488760
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9764271/
Abstract

Congenital hypothyroidism is an important issue of pediatric endocrinology at which timely diagnosis and treatment can prevent the development of severe cases of the disease. The developed clinical guidelines are a working tool for a practicing physician. The target audience is pediatric endocrinologists and pediatricians. They briefly and logically set out the main definition of the disease, epidemiology, classification, methods of diagnosis and treatment, based on the principles of -evidence-based medicine.

摘要

先天性甲状腺功能减退症是儿科内分泌学的一个重要问题,及时诊断和治疗可预防该疾病严重病例的发生。已制定的临床指南是执业医师的工作工具。目标受众是儿科内分泌学家和儿科医生。它们基于循证医学原则,简要且合乎逻辑地阐述了该疾病的主要定义、流行病学、分类、诊断方法和治疗方法。

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[Clinical guideline of «congenital hypothyroidism»].["先天性甲状腺功能减退症»临床指南"]
Probl Endokrinol (Mosk). 2022 Feb 17;68(2):90-103. doi: 10.14341/probl12880.
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Time trend and geographic distribution of treated patients with congenital hypothyroidism relative to the number of available endocrinologists in Japan.日本治疗先天性甲状腺功能减退症患者的时间趋势和地理分布与可利用内分泌专家人数的关系。
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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.
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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
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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
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.
3
TSH and FT4 Concentrations in Congenital Central Hypothyroidism and Mild Congenital Thyroidal Hypothyroidism.
先天性中枢性甲状腺功能减退症和轻度先天性甲状腺功能减退症患者的 TSH 和 FT4 浓度。
J Clin Endocrinol Metab. 2018 Apr 1;103(4):1342-1348. doi: 10.1210/jc.2017-01577.
4
Newborn Screening in the US May Miss Mild Persistent Hypothyroidism.美国的新生儿筛查可能会漏诊轻度持续性甲状腺功能减退症。
J Pediatr. 2018 Jan;192:204-208. doi: 10.1016/j.jpeds.2017.09.003.
5
GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation.GLIS3 对于 TSH/TSHR 依赖性甲状腺激素生物合成和滤泡细胞增殖是必不可少的。
J Clin Invest. 2017 Dec 1;127(12):4326-4337. doi: 10.1172/JCI94417. Epub 2017 Oct 30.
6
Congenital hypothyroidism: insights into pathogenesis and treatment.先天性甲状腺功能减退症:发病机制与治疗的见解
Int J Pediatr Endocrinol. 2017;2017:11. doi: 10.1186/s13633-017-0051-0. Epub 2017 Oct 2.
7
Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?先天性甲状腺功能减退症新生儿筛查中较低的促甲状腺激素(TSH)临界值是否合理?
Eur J Endocrinol. 2017 Nov;177(5):D1-D12. doi: 10.1530/EJE-17-0107. Epub 2017 Jul 10.
8
Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland.甲状腺位置正常的儿童短暂性先天性甲状腺功能减退症的预测因素
Ann Pediatr Endocrinol Metab. 2017 Jun;22(2):115-118. doi: 10.6065/apem.2017.22.2.115. Epub 2017 Jun 28.
9
Disorders of HO generation.骨形态发生蛋白生成障碍。
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):225-240. doi: 10.1016/j.beem.2017.04.006. Epub 2017 May 10.
10
Iodide handling disorders (NIS, TPO, TG, IYD).碘处理障碍(钠碘同向转运体、甲状腺过氧化物酶、甲状腺球蛋白、碘脱卤酶)
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):195-212. doi: 10.1016/j.beem.2017.03.006. Epub 2017 Apr 4.