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首页> 外文期刊>International Journal of Neonatal Screening >Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening
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Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening

机译：新生儿筛查21-羟化酶缺乏症引起的典型先天性肾上腺皮质增生患儿的早期诊断

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摘要

Congenital adrenal hyperplasia (CAH) comprises a group of rare autosomal recessively inherited disorders of cortisol biosynthesis in the adrenal cortex. More than 95% are based on a defect in the CYP21A2 gene causing 21-hydroxylase deficiency. Newborn screening (NBS) for CAH by means of 17-hydroxy-progesterone (17-OHP) determination in dried whole blood on filter paper has been introduced as part of the NBS in many countries worldwide. The goals of CAH screening are early detection of the severe, salt-wasting form, therefore prevention of adrenal crisis or death, early detection of the simple virilizing form, and prevention or shortening of the period of incorrect gender assignment in females. Methodological problems of false-positive samples, especially in pre-term infants, can be corrected by adapting the cut-off values for 17-OHP to birth weight, gestational age and age at the time of collection and by performing a second tier screening. Despite a positive voting for newborn CAH screening by the European Society for Pediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society, it is obvious that the acceptance of CAH screening varies worldwide.
机译：先天性肾上腺皮质增生（CAH）包括一组在肾上腺皮质中罕见的常染色体隐性遗传性皮质醇生物合成疾病。超过95％基于CYP21A2基因缺陷导致21-羟化酶缺陷。通过滤纸干燥全血中17-羟基孕酮（17-OHP）测定对CAH进行的新生儿筛查（NBS）已作为NBS的一部分在全球许多国家/地区推出。 CAH筛查的目标是及早发现严重的，浪费盐的形式，从而预防肾上腺危机或死亡，及早发现简单的男性化形式，以及预防或缩短女性性别分配错误的时期。可以通过调整17-OHP的临界值以适应出生时的体重，胎龄和年龄，并进行第二层筛查，来纠正假阳性样品的方法学问题，尤其是在早产儿。尽管欧洲儿科内分泌学会和劳森·威尔金斯儿科内分泌学会对新生儿CAH筛查表示赞成，但显而易见，全球范围内对CAH筛查的接受程度有所不同。

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