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Detecting congenital hypothyroidism with newborn screening: the relevance of thyroid-stimulating hormone cutoff values a??

机译：通过新生儿筛查发现先天性甲状腺功能减退症：促甲状腺激素截止值的相关性

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Objectives: To assess the prevalence of congenital hypothyroidism and the ability of various neonatal thyroid-stimulating hormone (TSHneo) cutoff values to detect this disease. Methods: This cohort study was based on the retrospective collection of information available from the Reference Service for Newborn Screening database for all live births from January 1, 2010, to December 31, 2012, assessed using the Newborn Screening Program of a Brazilian state, Brazil. The infants were divided into two groups: I - Control: infants with normal newborn screening tests and II - Study: infants with congenital hypothyroidism. Analysis included comparing the TSHneo levels from both groups. A receiver operating characteristic (ROC) curve was constructed to assess the TSHneo cutoff values. Results: Using a TSHneo cutoff value of 5.0 ?μIU/mL, 50 out of 111,705 screened infants had diagnosis of congenital hypothyroidism (prevalence 1:2234 live births). The ROC curve showed that TSHneo value of 5.03 ?μIU/mL had 100% sensitivity and the greatest associated specificity (93.7%). The area under the curve was 0.9898 ( p < 0.0001). Conclusions: The ROC curve confirmed that the TSHneo cutoff value of 5.0 ?μIU/mL adopted by the Newborn Screening Program of a Brazilian state was the most appropriate for detecting congenital hypothyroidism and most likely explains the high prevalence that was found.
机译：目的：评估先天性甲状腺功能减退的患病率以及各种新生儿甲状腺刺激激素（TSHneo）临界值检测该疾病的能力。方法：该队列研究基于回顾性收集的信息，该信息可从2010年1月1日至2012年12月31日所有活产儿的新生儿筛查参考服务数据库中收集，该信息使用巴西巴西州的新生儿筛查计划进行评估。婴儿分为两组：I-对照：新生儿筛查试验正常的婴儿和II-研究：先天性甲状腺功能减退症的婴儿。分析包括比较两组的TSHneo水平。构建接收器工作特性（ROC）曲线以评估TSHneo截止值。结果：使用TSHneo截断值为5.0？IU / mL，在111,705名筛查婴儿中，有50名被诊断为先天性甲状腺功能减退（患病率为1：2234活产）。 ROC曲线显示，TSHneo值为5.03？μIU/ mL具有100％的敏感性和最大的相关特异性（93.7％）。曲线下的面积为0.9898（p <0.0001）。结论：ROC曲线证实，巴西州新生儿筛查计划采用的TSHneo截断值为5.0 µμIU / mL是最适合检测先天性甲状腺功能减退症的方法，最有可能解释了高患病率。

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