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首页> 外文期刊>Seminars in neonatology: SN >Screening for neonatal endocrinopathies: rationale, methods and results.
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Screening for neonatal endocrinopathies: rationale, methods and results.

机译：新生儿内分泌病筛查：基本原理，方法和结果。

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The measurement of thyrotropin or thyroxine from dried blood spots collected from neonates allows diagnosis before clinical manifestations develop, and prevents mental deficiency from congenital hypothyroidism. However, severely hypothyroid newborns remain at risk of cognitive problems that may be avoided if they are treated within two weeks of birth, hence the importance of a quick turnaround time of the screening programme. This also applies to screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency based on the measurement of 17-hydroxy-progesterone from dried blood; this was primarily designed to prevent neonatal deaths from acute adrenal insufficiency. This goal can be achieved by a high degree of clinical awareness of the diagnosis, but this has only been reported in a few jurisdictions. Furthermore, biochemical screening allows earlier treatment. On the other hand, there are many false positives, mostly in premature infants, so screening for 21-hydroxylase deficiency has not been universally adopted.
机译：从新生儿采集的干血斑中测定促甲状腺激素或甲状腺素可在临床表现发展之前进行诊断，并防止先天性甲状腺功能减退症所致的精神缺陷。但是，严重甲状腺功能低下的新生儿仍存在认知问题的风险，如果在出生后两周内接受治疗，可以避免这种情况，因此，快速进行筛查计划很重要。这也适用于根据干血中17-羟孕酮的测定筛查因21-羟化酶缺乏而引起的先天性肾上腺增生。这主要是为了防止新生儿由于急性肾上腺功能不全而死亡。可以通过对诊断的高度临床认识来实现此目标，但这仅在少数司法管辖区得到了报道。此外，生化筛选可以更早地进行治疗。另一方面，有许多假阳性，主要是在早产儿，因此筛查21-羟化酶缺乏症尚未得到普遍采用。

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