In this review, we will focus on urinary steroid profiling by gas chromatography mass spectrometry (GC/MS) and summarize its contribution to the diagnosis of abnormal steroidogenesis; congenital enzyme deficiency of steroid synthesis and metabolism, adrenal carcinoma and other steroid related diseases. Mass spectrometry technique, such as GC/MS and liquid chromatography tandem mass spectrometry (LC-MS/MS), has become the main tool for steroid measurement and GC/MS is mainly used for urine sampling. We will discuss the pros and cons of urinary steroid profiling by GC/MS and LC-MS/MS. Although GC/MS analysis needs intricate pretreatment, time and expenses, sensitive and simultaneous measurement of whole pathway steroid measurements have improved the accuracy of diagnosis.
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