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Defects of steroidogenesis

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Abstract

In the biosynthesis of steroid hormones the neutral lipid cholesterol, a normal constituent of lipid bilayers is transformed via a series of hydroxylation, oxidation, and reduction steps into a vast array of biologically active compounds: mineralocorticoids, glucocorticoids, and sex hormones. Glucocorticoids regulate many aspects of metabolism and immune function, whereas mineralocorticoids help maintain blood volume and control renal excretion of electrolytes. Sex hormones are essential for sex differentiation in male and support reproduction. They include androgens, estrogens, and progestins. A block in the pathway of steroid biosynthesis leads to the lack of hormones downstream and accumulation of the upstream compounds that can activate other members of the steroid receptor family. This review deals with the clinical consequences of these blocks.

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Authors and Affiliations

  1. Division of Endocrinology and Diabetology, University Children’s Hospital, Steinwiesstrasse 75, CH-8032, Zurich, Switzerland

    A. Biason-Lauber

  2. Endocrinology, Department of Internal Medicine and Applied Biotechnologies,Umberto I Hospital, School of Medicine, Polytechnic University of Marche, Ancona

    M. Boscaro & G. Balercia

  3. Endocrinology, Department of Medical and Surgical Sciences, University of Padua, Padua, Italy

    F. Mantero

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  1. A. Biason-Lauber
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  2. M. Boscaro
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  4. G. Balercia
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Correspondence to A. Biason-Lauber.

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Biason-Lauber, A., Boscaro, M., Mantero, F. et al. Defects of steroidogenesis. J Endocrinol Invest 33, 756–766 (2010). https://doi.org/10.1007/BF03346683

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  • DOI: https://doi.org/10.1007/BF03346683

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