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Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry

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Book cover Laboratory Guide to the Methods in Biochemical Genetics

Abstract

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.

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Authors and Affiliations

  1. Oakland Research Institute, Children’s Hospital, 5700 Martin Luther King Jr Way, 94609, Oakland, CA, USA

    Cedric Shackleton

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  1. Cedric Shackleton
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Editors and Affiliations

  1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Nenad Blau

  2. Academic Medical Centre, Lab. Genetic Metabolic; Diseases Fo-224, University Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands

    Marinius Duran

  3. Dept. of Molecular and Medical Genetics, Oregon Health & Science University, 3rd Avenue 2525, 97201, Portland, USA

    K. Michael Gibson

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© 2008 Springer-Verlag Berlin Heidelberg

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Shackleton, C. (2008). Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_26

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  • DOI: https://doi.org/10.1007/978-3-540-76698-8_26

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