Held Patrice K, Bird Ian M, Heather Natasha L
Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA.
Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA.
Int J Neonatal Screen. 2020 Aug 23;6(3):67. doi: 10.3390/ijns6030067. eCollection 2020 Sep.
Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preventing salt-wasting crisis during the first weeks of life. However, current first-tier screening methodologies lack specificity, leading to a large number of false positive cases, and adequate sensitivity to detect all cases of classic 21OHD that would benefit from treatment. This review summarizes the pathology of 21OHD and also the key stages of fetal hypothalamic-pituitary-adrenal axis development and adrenal steroidogenesis that contribute to limitations in screening accuracy. Factors leading to both false positive and false negative results are highlighted, along with specimen collection best practices used by laboratories in the United States and worldwide. This comprehensive review provides context and insight into the limitations of newborn screening for 21OHD for laboratorians, primary care physicians, and endocrinologists.
对21-羟化酶缺乏症（21OHD）进行新生儿筛查，这是先天性肾上腺皮质增生最常见的形式，在美国和其他国家已常规开展了20多年。筛查为早期发现和治疗21OHD患者提供了机会，可预防出生后最初几周的失盐危象。然而，目前的一线筛查方法缺乏特异性，导致大量假阳性病例，且对所有可从治疗中获益的经典21OHD病例的检测灵敏度不足。本综述总结了21OHD的病理学，以及导致筛查准确性受限的胎儿下丘脑-垂体-肾上腺轴发育和肾上腺类固醇生成的关键阶段。文中强调了导致假阳性和假阴性结果的因素，以及美国和全球实验室采用的标本采集最佳做法。这一全面综述为实验室人员、初级保健医生和内分泌学家提供了关于21OHD新生儿筛查局限性的背景信息和见解。
