Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Warsaw Medical University, Warsaw, Poland.
Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
Adv Exp Med Biol. 2018;1039:67-82. doi: 10.1007/5584_2017_80.
Disturbances of the steroidogenesis or altered peripheral metabolism of steroids may result in severe clinical manifestations. Therefore, prompt diagnosis and initiation of medical treatment are desirable. The diagnostics of disorders of steroid hormone production, metabolism, and action have been previously based on immunoassay tests. However, in a modern medical laboratory, due to low accuracy of immunoassays, this technique is continuously replaced by chromatographic separation methods coupled to mass spectrometric detection systems. In this review we present current advances in the diagnostics of adrenal gland disorders, focusing on the role of mass spectrometry in prenatal and newborn screening, and in the diagnostics of sexual maturation disorders.
类固醇生成或类固醇外周代谢紊乱可能导致严重的临床表现。因此，理想情况下应进行及时诊断和开始医学治疗。类固醇激素产生、代谢和作用障碍的诊断以前基于免疫测定试验。然而，在现代医学实验室中，由于免疫测定的准确性低，该技术不断被色谱分离方法与质谱检测系统相结合的方法所取代。在本综述中，我们介绍了肾上腺疾病诊断方面的最新进展，重点介绍了质谱在产前和新生儿筛查以及性成熟障碍诊断中的作用。
