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7427588 
Journal Article 
Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry 
Shackleton, C; , 
2008 
Springer Berlin Heidelberg 
Berlin, Heidelberg 
Laboratory Guide to the Methods in Biochemical Genetics 
549-605 
From a biochemical perspective most genetic disorders of steroid synthesis and metabolism are best studied by measuring individual steroids, or panels in serum, and/or by producing metabolic profiles of urinary steroids. There is increasing interest in further developing these analyses within the developing field of metabolomics. Classical analyses of hormones using immunoassays no longer have the sensitivity and accuracy demanded by physicians and researchers, and tandem mass spectrometry is rapidly taking over this role. However, gas-chromatography/ mass spectrometry (GC/MS) still reins supreme for the metabolic profiling of steroid metabolites, although this may slowly change. This chapter summarises recent developments in HPLC/MS techniques for hormonal steroid analysis as well as providing a comprehensive description of the use of mass spectrometry in the diagnosis and study of almost all single gene disorders of steroid synthesis and metabolism.