Rauh Manfred
Kinder- und Jugendklinik, Universitätsklinikum Erlangen, Loschgestr, 15, 91054 Erlangen, Germany.
Mol Cell Endocrinol. 2009 Mar 25;301(1-2):272-81. doi: 10.1016/j.mce.2008.10.007. Epub 2008 Oct 19.
The liquid chromatography-tandem mass spectrometry (LC-MS/MS) is an increasingly common tool in the clinical laboratory. Established applications include routine assays for detecting inborn errors of metabolism and for monitoring therapeutic drugs and steroids. Steroid profiling is a very effective method for distinguishing almost all steroid related disorders. It allows accurate diagnosis and is very useful in many clinical situations. Most methods for the determination of steroid hormones are based on immunoassays, which are rapid and easy to perform. However, the reliability of steroid immunoassays has been shown to be doubtful because of the lack of specificity and of matrix effects. Immunological methods, especially direct assays, often overestimate true steroid values. This is of particular importance in the newborn period and in early infancy. Problems with steroid immunoassays have further been reported for female patients or when analysing different media, e.g. saliva. Patient follow-up over time or between laboratories, as well as longitudinal studies are extremely difficult. In contrast to immunoassays, which allow the measurement of only a single steroid at a time, LC-MS/MS has the advantage that a wide spectrum of steroid hormones can be measured simultaneously. The applicability for clinical samples and problems in pediatric endocrinology will be discussed.
液相色谱-串联质谱法（LC-MS/MS）在临床实验室中越来越常用。其既定应用包括用于检测先天性代谢缺陷以及监测治疗药物和类固醇的常规检测。类固醇谱分析是区分几乎所有类固醇相关疾病的非常有效的方法。它能实现准确诊断，在许多临床情况下都非常有用。大多数测定类固醇激素的方法基于免疫分析，免疫分析快速且易于操作。然而，由于缺乏特异性和基质效应，类固醇免疫分析的可靠性已被证明令人怀疑。免疫方法，尤其是直接检测法，常常高估真实的类固醇值。这在新生儿期和婴儿早期尤为重要。对于女性患者或在分析不同介质（如唾液）时，类固醇免疫分析的问题也有进一步报道。随着时间推移或在不同实验室之间对患者进行随访，以及进行纵向研究都极其困难。与一次只能测量一种类固醇的免疫分析不同，LC-MS/MS的优势在于可以同时测量多种类固醇激素。本文将讨论其在临床样本中的适用性以及儿科内分泌学中的问题。
