Urinary steroid profiling: a powerful method for the diagnosis of abnormal steroidogenesis

Abstract

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.

Keywords::

• adrenal tumor
• congenital adrenal hyperplasia
• gas chromatography mass spectrometry
• steroid profiling
• urinary steroid metabolites

Acknowledgements

We would like to thank Dr Misa Honda for critical comments and language editing.

Financial & competing interests disclosure

Y Koyama is an employee of Mitsubishi Chemical Medience Co. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Urinary steroid metabolite measurement is widely performed in clinical laboratory by mass spectrometry technique instead of immunoassay. However, ‘routine profiling analysis’ is performed in limited facilities.

• Steroid profiling is the most powerful method in the diagnosis of congenital enzyme deficiency of steroid metabolism because each enzyme deficiency shows characteristic urinary steroid pattern.

• Gas chromatography mass spectrometry technique has been mainly used in urinary steroid metabolites measurement so far, but recently, liquid chromatography tandem mass spectrometry technique has been used for steroid hormone measurement in the clinical laboratories.

Notes