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新生儿甲状腺功能亢进症筛查:概念验证

Neonatal Screening for Hyperthyroidism Proof of Concept.

作者信息

Banigé Maïa, Kariyawasam Dulanjalee, Gauthereau Valerie, Luton Dominique, Polak Michel

机构信息

Department of Neonatal Pediatrics and Intensive Care, Hôpital Universitaire Cochin-Port Royal, Assistance Publique Hôpitaux de Paris, (AP-HP), Paris, France.

Pediatric Endocrinology, Gynecology and Diabetology Department, Hôpital Universitaire Necker-Enfants Malades, AP-HP, INSERM U1016, IMAGINE Institute, Paris, France.

出版信息

J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1374-e1381. doi: 10.1210/clinem/dgab890.

DOI:10.1210/clinem/dgab890
PMID:34894265
Abstract

CONTEXT

Early treatment is essential to avoid the cardiac complication of neonatal hyperthyroidism (NH). Our results have direct implications for clinical care.

OBJECTIVE

NH can cause potentially fatal neonatal thyrotoxicosis. Here, we have evaluated the feasibility of neonatal hyperthyroidism screening using the thyroid-stimulating hormone value in dried blood collected routinely on filter paper on the third postnatal day of life for congenital hypothyroidism screening.

METHODS

Retrospective case-control study. Cases were identified using data from our previously published study of 280 000 infants born in 10 maternity units in France in 2007-2014. Controls were identified among the 1 362 564 infants born in the Ile-de-France region during the same period.

RESULTS

A screening thyroid-stimulating hormone level below 0.18 mIU/L on the third postnatal day had 71% (95% CI 44-90%) sensitivity, 99% (95% CI 99-100%) specificity, 81% (95% CI 74-86%) positive predictive value, and 98% (95% CI 97-99%) negative predictive value for detecting severe NH. By univariate regression analysis, the screening thyroid-stimulating hormone value was the strongest predictor of NH (P < .00001), with an area under the receiver-operating characteristics curve of 0.98 (95% CI 0.95-1.0). Expected frequencies were not significantly different from observed frequencies (Hosmer-Lemeshow test, P = .99).

CONCLUSION

The screening thyroid-stimulating hormone test can be used to detect severe NH, the optimal cut-off being 0.18 mIU/L. The additional cost compared with screening for congenital hypothyroidism would be small. Infants with neonatal hyperthyroidism would benefit from an earlier diagnosis with treatment initiation at the presymptomatic stage in many cases, ensuring optimal outcomes.

摘要

背景

早期治疗对于避免新生儿甲亢(NH)的心脏并发症至关重要。我们的研究结果对临床护理具有直接意义。

目的

NH可导致潜在致命的新生儿甲状腺毒症。在此,我们评估了利用出生后第三天常规采集于滤纸上用于先天性甲状腺功能减退症筛查的干血片中促甲状腺激素值进行新生儿甲亢筛查的可行性。

方法

回顾性病例对照研究。病例通过我们之前发表的关于2007年至2014年在法国10个产科出生的280000例婴儿的研究数据进行识别。对照组来自同期在法兰西岛地区出生的1362564例婴儿。

结果

出生后第三天筛查促甲状腺激素水平低于0.18 mIU/L对检测重度NH的敏感性为71%(95%CI 44 - 90%),特异性为99%(95%CI 99 - 100%),阳性预测值为81%(95%CI 74 - 86%),阴性预测值为98%(95%CI 97 - 99%)。通过单因素回归分析,筛查促甲状腺激素值是NH最强的预测指标(P <.00001),受试者工作特征曲线下面积为0.98(95%CI 0.95 - 1.0)。预期频率与观察频率无显著差异(Hosmer - Lemeshow检验,P =.99)。

结论

筛查促甲状腺激素检测可用于检测重度NH,最佳临界值为0.18 mIU/L。与先天性甲状腺功能减退症筛查相比,额外成本较小。新生儿甲亢婴儿在许多情况下将受益于早期诊断并在症状前期开始治疗,从而确保最佳治疗效果。

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