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Cholesterol Synthesis Defects

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Disorders of Steroidogenesis

Abstract

The phenotype of some inborn errors of cholesterol biosynthesis may present with symptoms suggestive of adrenal or gonadal steroid disorders. An overview of cholesterol biosynthesis is presented with more in-depth coverage of two disorders in which a urine steroid profile can play a role in the diagnosis: cytochrome P450 oxidoreductase deficiency and Smith-Lemli-Opitz syndrome.

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Further Reading

More About the POR Enzyme and Effect of Mutations

  • Huang N, Agrawal V, Giacomini KM, Miller WL. Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. Proc Natl Acad Sci U S A. 2008;105:1733–8.

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  • Miller WL, Huang N, Agrawal V, Giacomini KM. Genetic variation in human P450 oxidoreductase. Mol Cell Endocrinol. 2009;300:180–4.

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Prenatal Metabolites Found in POR

  • Shackleton C, Marcos J, Arlt W, Hauffa BP. Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley–Bixler syndrome phenotype. Am J Med Genet A. 2004;129A:105–12.

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SLOS

    Prenatal Metabolites

    • Shackleton CH, Roitman E, Kratz LE, Kelley RI. Equine type estrogens produced by a pregnant woman carrying a Smith–Lemli–Opitz syndrome fetus. J Clin Endocrinol Metab. 1999;84:1157–9.

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    • Shackleton CH, Roitman E, Kratz LE, Kelley RI. Midgestational maternal urine steroid markers of fetal Smith–Lemli–Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency). Steroids. 1999;64:446–52.

      Article  CAS  Google Scholar 

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    Author information

    Authors and Affiliations

    1. Manual Blood Sciences, Health Services Laboratories LLP, London, UK

      Francis Lam

    2. Department of Clinical Biochemistry, Bristol Royal Infirmary, University Hospitals Bristol, Bristol, UK

      Oliver Clifford-Mobley

    Authors
    1. Francis Lam
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    2. Oliver Clifford-Mobley
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    Corresponding author

    Correspondence to Francis Lam .

    Editor information

    Editors and Affiliations

    1. Department of Clinical Biochemistry, University College London Hospitals, London, UK

      Gill Rumsby

    2. Department of Clinical Biochemistry, University College London Hospitals NHS, London, UK

      Gary M. Woodward

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    Lam, F., Clifford-Mobley, O. (2019). Cholesterol Synthesis Defects. In: Rumsby, G., Woodward, G. (eds) Disorders of Steroidogenesis. Springer, Cham. https://doi.org/10.1007/978-3-319-96364-8_14

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    • DOI: https://doi.org/10.1007/978-3-319-96364-8_14

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    • Publisher Name: Springer, Cham

    • Print ISBN: 978-3-319-96363-1

    • Online ISBN: 978-3-319-96364-8

    • eBook Packages: MedicineMedicine (R0)

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