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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.

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

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