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先天性甲状腺功能减退症新生儿筛查50年:病因、诊断与管理认知的演变:先天性甲状腺功能减退症成年患者的孕期管理及长期预后

50 YEARS OF NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM: EVOLUTION OF INSIGHTS IN ETIOLOGY, DIAGNOSIS AND MANAGEMENT: Management during pregnancy and long-term outcomes of adult patients with congenital hypothyroidism.

作者信息

Mégier Charles, Luton Dominique, Stoupa Athanasia

出版信息

Eur Thyroid J. 2025 Jul 11;14(4). doi: 10.1530/ETJ-25-0125. Print 2025 Aug 1.

DOI:10.1530/ETJ-25-0125
PMID:40570035
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12257606/
Abstract

Congenital hypothyroidism (CH) is a lifelong condition, diagnosed shortly after birth through newborn screening in one-third of countries worldwide. When diagnosed and treated early in nonsyndromic CH, most patients exhibit similar fertility, metabolic and cardiovascular health, bone health, and quality of life compared to unaffected individuals. Special precautions are required for adult female patients with CH during pregnancy to ensure optimal management and to prevent serious maternal and fetal complications. In this review, we summarize the current knowledge on comorbidities and the long-term management of adults with CH, with a particular focus on pregnancy.

摘要

先天性甲状腺功能减退症(CH)是一种终身疾病,在全球三分之一的国家通过新生儿筛查在出生后不久即可诊断。在非综合征性CH中,若能早期诊断并治疗,大多数患者在生育能力、代谢和心血管健康、骨骼健康及生活质量方面与未患病个体相似。患有CH的成年女性患者在孕期需要采取特殊预防措施,以确保最佳管理并预防严重的母婴并发症。在本综述中,我们总结了目前关于CH成年患者合并症及长期管理的知识,尤其关注孕期情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e3e/12257606/024f2dbcdc31/ETJ-25-0125fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e3e/12257606/024f2dbcdc31/ETJ-25-0125fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e3e/12257606/024f2dbcdc31/ETJ-25-0125fig1.jpg

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本文引用的文献

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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.
2
Newborn screening for primary congenital hypothyroidism: past, present and future.原发性先天性甲状腺功能减退症的新生儿筛查:过去、现在与未来。
Eur Thyroid J. 2025 Mar 3;14(2). doi: 10.1530/ETJ-24-0358. Print 2025 Apr 1.
3
Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start.
先天性甲状腺功能减退症的新生儿筛查:开展50年后的全球覆盖率
Eur Thyroid J. 2025 Jan 31;14(1). doi: 10.1530/ETJ-24-0327. Print 2025 Feb 1.
4
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.甲状腺发育不全所致先天性甲状腺功能减退症的双基因遗传模式:HYPOTYGEN转化队列研究
J Clin Endocrinol Metab. 2025 Sep 16;110(10):e3489-e3502. doi: 10.1210/clinem/dgaf004.
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Comorbidity in Congenital Hypothyroidism-A Nationwide, Population-based Cohort Study.先天性甲状腺功能减退症的合并症:一项全国范围内基于人群的队列研究。
J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1695-e1701. doi: 10.1210/clinem/dgad334.
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Iodine and Thyroid Maternal and Fetal Metabolism during Pregnancy.孕期碘与甲状腺母婴代谢
Metabolites. 2023 May 6;13(5):633. doi: 10.3390/metabo13050633.
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Adult Thyroid Outcomes of Congenital Hypothyroidism.先天性甲状腺功能减退症的成人甲状腺结局
Thyroid. 2023 May;33(5):556-565. doi: 10.1089/thy.2022.0481. Epub 2023 Apr 21.
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Paediatr Perinat Epidemiol. 2023 Mar;37(3):218-228. doi: 10.1111/ppe.12941. Epub 2022 Dec 8.
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