Kinder- und Jugendklinik, Universitätsklinikum Erlangen, Loschgestr. 15, 91054 Erlangen, Germany.
J Steroid Biochem Mol Biol. 2010 Aug;121(3-5):520-7. doi: 10.1016/j.jsbmb.2009.12.007. Epub 2009 Dec 28.
The correct measurement of steroids is vital for the diagnosis of congenital adrenal hyperplasia (CAH), apparent mineralocorticoid excess, familial hyperaldosteronism type I, primary aldosteronism, Cushing's disease, adrenal insufficiency, etc. Steroid diagnostics also plays an important role in disorders of sexual differentiation and gonadal function. Steroid metabolism is involved in evaluations for precocious puberty, premature thelarche, and polycystic-ovary disease. Finally, the hypothalamo-pituitary-adrenal (HPA) axis is considered to be one of the major systems involved in fetal programming or in stress regulation. Most methods for the determination of steroid hormones are based on immunoassays, which are rapid and easy to perform. However, the reliability of several steroid immunoassays has been shown to be questionable because of the lack of specificity and of matrix effects. Immunological methods, especially direct assays, often overestimate true steroid values. Patient follow-up over time or between laboratories, as well as longitudinal studies, are therefore extremely difficult. This is of particular importance in pediatrics. Liquid chromatography triple quadrupole mass spectrometry (LC-MS/MS) is an increasingly common tool in the clinical laboratory and has the potential to overcome the limitations of immunoassays. LC-MS/MS affords the specificity, imprecision, and limits of quantification necessary for the reliable measurement of steroids, expanding diagnostic capabilities. In addition to the high throughput, the method requires minimal sample preparation and a small sample volume. All these features make it an attractive method to use in a clinical setting. Moreover, LC-MS/MS has the advantage that a spectrum of steroid hormones can be measured simultaneously. 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. Steroid profiles open up new vistas. The applicability for clinical samples and questions in pediatric endocrinology will be discussed.
类固醇的正确测量对于先天性肾上腺增生症（CAH）、明显盐皮质激素过多症、家族性醛固酮增多症 I 型、原发性醛固酮增多症、库欣病、肾上腺功能不全等疾病的诊断至关重要。类固醇诊断在性别分化和性腺功能障碍中也起着重要作用。类固醇代谢参与性早熟、早熟性乳房发育和多囊卵巢疾病的评估。最后，下丘脑-垂体-肾上腺（HPA）轴被认为是参与胎儿编程或应激调节的主要系统之一。大多数类固醇激素测定方法都是基于免疫测定，这种方法快速且易于操作。然而，由于缺乏特异性和基质效应，一些类固醇免疫测定的可靠性已受到质疑。免疫方法，特别是直接测定法，往往会高估真实的类固醇值。因此，患者随时间或在不同实验室的随访以及纵向研究非常困难。这在儿科尤为重要。液相色谱三重四极杆质谱（LC-MS/MS）是临床实验室中越来越常用的工具，具有克服免疫测定局限性的潜力。LC-MS/MS 具有类固醇可靠测量所需的特异性、不精密度和定量下限，扩展了诊断能力。除了高通量之外，该方法还需要最少的样品制备和小体积的样品。所有这些特点使其成为临床环境中极具吸引力的方法。此外，LC-MS/MS 具有同时测量多种类固醇激素的优势。类固醇谱分析是区分几乎所有与类固醇相关的疾病的非常有效的方法。它可以进行准确的诊断，在许多临床情况下非常有用。类固醇谱开辟了新的视野。将讨论其在临床样本和儿科内分泌学中的应用。
