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在第二个新生儿屏幕上与早期检测非经典先天性上腺增生有关的高雄性差异
Bonnie McCann-Crosby1, Mark C Liang2, Mitchell E Geffner2,3,4
1Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
International journal of neonatal screening
|September 27, 2023
概括
第二次新生儿查 (NBS) 在休斯顿检测到超过一半的非经典先天性上腺增生病例 (NCAH). 早期检测NCAH可以预防高雄性异能症及其并发症.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 在全球范围内,先天性上腺增生症 (CAH) 查有所不同.
- 非经典CAH (NCAH) 检测方法需要进一步调查.
研究的目的:
- 为了比较NCAH检测率,使用一个与两个新生儿查 (NBS).
- 在NCAH患者中分析17-基孕 (17-OHP) 水平,基因型和表型.
主要方法:
- 从休斯顿和洛杉矶的高等中心回顾数据收集.
- 通过NBS识别的35名NCAH患者的分析与儿童诊断.
- 记录NBS过纸17-OHP水平和每日切断值.
主要成果:
- 休斯顿53%的NCAH病例是由第二次NBS识别的.
- 晚些时候诊断的儿童出现过早的青春期;LA患者表现出更多的病毒化表型.
- 与休斯顿第二次NBS诊断的患者相比,在LA晚些时候诊断的患者在治疗开始时年龄较大.
结论:
- 通过NBS早期检测NCAH可以预防不良的超原体效应.
- 第二个NBS对于识别显著比例的NCAH病例至关重要.
- 对基因型和成本效益的进一步研究是有必要的.
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