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对促甲状腺激素升高新生儿的处理:碘缺乏国家国际指南的不同视角

Approach to Newborns with Elevated TSH: A Different Perspective from the International Guidelines for Iodine-deficient Countries.

作者信息

Kara Cengiz, Korkmaz Hüseyin Anıl

机构信息

İstinye University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Türkiye

University of Health Sciences Türkiye, İzmir Faculty of Medicine, Department of Pediatrics, Clinic of Pediatric Endocrinology, İzmir, Türkiye

出版信息

J Clin Res Pediatr Endocrinol. 2025 Aug 22;17(3):242-255. doi: 10.4274/jcrpe.galenos.2024.2024-4-15. Epub 2024 Oct 8.

Abstract

Lowering of thyroid-stimulating hormone (TSH) cutoffs in newborn screening programs has created a management dilemma by leading to more frequent detection of neonates with elevated TSH concentrations due to false-positive results, transient neonatal hyperthyrotropinemia (NHT), and milder forms of congenital hypothyroidism. Current consensus guidelines recommend starting treatment if the venous TSH level is >20 mU/L in the face of a normal free thyroxine (FT4) level, which is an arbitrary threshold for treatment decisions. In countries such as Türkiye, where transient NHT may be more common due to iodine deficiency (ID) and/or overload, putting this recommendation into daily practice may lead to unnecessary or over treatment, time-consuming long-term follow-up, and increased workload and costs. In this review, we addressed alternative approaches for infants with elevated TSH concentrations detected at newborn screening. The suggested management approach can be summarized as: Infants with mild NHT (venous TSH <20 mU/L) should be followed without treatment. In moderate NHT (venous TSH 20-30 mU/L), treatment or monitoring decisions can be made according to age, TSH trend and absolute FT4 level. Moderate cases of NHT should be treated if age at confirmatory testing is >21 days or if there is no downward trend in TSH and FT4 level is in the lower half of age-specific reference range in the first 21 days. In in-between cases of moderate NHT, thyroid ultrasound may guide treatment decision by determining mild cases of thyroid dysgenesis that require life-long treatment. Otherwise, monitoring is a reasonable option. Infants with compensated hypothyroidism (venous TSH >30 mU/L and normal FT4) or persistent hyperthyrotropinemia (>6-10 mU/L after the neonatal period) should receive L-thyroxine treatment. However, all treated cases of isolated TSH elevation should be closely monitored to avoid overtreatment, and re-evaluated by a trial off therapy. This alternative approach will largely eliminate unnecessary treatment of infants with transient NHT, mostly caused by ID or excess in Türkiye, and will reduce workload and costs by preventing unwarranted investigation and long-term follow-up.

摘要

新生儿筛查项目中降低促甲状腺激素(TSH)临界值,导致因假阳性结果、短暂性新生儿促甲状腺激素血症(NHT)和较轻形式的先天性甲状腺功能减退症而更频繁地检测到TSH浓度升高的新生儿,从而造成了管理难题。目前的共识指南建议,在游离甲状腺素(FT4)水平正常的情况下,若静脉TSH水平>20 mU/L,则开始治疗,这是治疗决策的一个任意阈值。在土耳其等国家,由于碘缺乏(ID)和/或碘过载,短暂性NHT可能更为常见,将这一建议应用于日常实践可能会导致不必要的或过度治疗、耗时的长期随访以及工作量和成本的增加。在本综述中,我们探讨了新生儿筛查时检测到TSH浓度升高的婴儿的替代处理方法。建议的管理方法可总结如下:轻度NHT(静脉TSH<20 mU/L)的婴儿应在不治疗的情况下进行随访。中度NHT(静脉TSH 20 - 30 mU/L)时,可根据年龄、TSH趋势和绝对FT4水平做出治疗或监测决策。如果确诊检测时年龄>21天,或者在最初21天内TSH没有下降趋势且FT4水平处于年龄特异性参考范围的下半部分,则中度NHT病例应接受治疗。在中度NHT的中间病例中,甲状腺超声可通过确定需要终身治疗的轻度甲状腺发育异常病例来指导治疗决策。否则,监测是一个合理的选择。代偿性甲状腺功能减退(静脉TSH>30 mU/L且FT4正常)或持续性促甲状腺激素血症(新生儿期后>6 - 10 mU/L)的婴儿应接受左甲状腺素治疗。然而,所有单纯TSH升高的治疗病例都应密切监测以避免过度治疗,并通过停药试验进行重新评估。这种替代方法将在很大程度上消除对主要由土耳其的ID或碘过量引起的短暂性NHT婴儿的不必要治疗,并通过避免不必要的检查和长期随访来减少工作量和成本。

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