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用LC-MS/MS测量血清类固醇激素度的新生儿参考间隔

Anouk Olthof^1,2, Jolanda C Naafs^2,3, Nitash Zwaveling-Soonawala^2,3

¹Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam UMC, Location University of Amsterdam and Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Clinical chemistry and laboratory medicine

|October 18, 2024

概括

这项研究确定了新生儿类固醇激素水平的关键参考间隔,这对于诊断先天性上腺增生 (CAH) 和其他疾病至关重要. 这些发现改善了新生儿的早期检测和管理.

科学领域:

内分泌学在内分泌学.
新生儿医学新生儿医学
生物化学生化学

背景情况:

先天性上腺增生 (CAH) 是一种罕见的遗传性疾病,影响上腺类固醇合成.
新生儿查计划有助于早期诊断和治疗CAH.
准确诊断CAH和新生儿性发育 (DSD) 的其他差异需要精确的血清类固醇激素测量.

研究的目的:

为了建立可靠的,特定于年龄和性别的参考间隔 (RIs) 对新生儿血清类固醇激素.
使用液体染色学-并联质谱法 (LC-MS/MS) 进行精确的荷尔蒙量化.
为了解决新生儿类固醇激素分析目前缺乏确立的RI的问题.

主要方法:

在两个时间点从健康的新生儿收集血清样本:第3至8天 (T1) 和第13至15天 (T2).
使用LC-MS/MS测量皮质醇,皮质素,皮质,11-脱氧皮质醇,21-脱氧皮质醇,11-脱氧皮质,,安德罗,和17-基 (17-OHP) 的度.
在两个时间点计算每个激素的参考间隔,特别注意丸激素的性别差异.

主要成果:

基于LC-MS/MS的RI成功确定了新生儿所有测量的类固醇激素.
特定的RI (以nmol/L) 确定了在T1和T2.2的皮质醇,皮质醇,皮质,11-脱氧皮质醇,17-OHP,安德罗斯,11-脱氧皮质醇和21-脱氧皮质醇.
激素RI显示男性和女性新生儿之间存在显著差异,在两个时间点为每个性别建立了不同的间隔.

结论:

这项研究成功地为新生儿的关键类固醇激素建立了基于LC-MS/MS的参考间隔.
已建立的RI对于准确诊断和管理新生儿时期的CAH和DSD等疾病至关重要.
这些发现为临床实验室和参与新生儿内分泌学的医疗保健提供者提供了必要的数据.

关键词:

色素是一种色素.皮质类固醇是什么质谱测量质谱测量质谱测量质量测量质谱测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量质量测量新生儿们的新生儿参考时间间隔是参考时间间隔.

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