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Hereditary defects of steroid biosynthesis

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Book cover Inborn Errors of Metabolism in Humans

Abstract

The adrenocortical and gonadal hormones are synthesized through a common initial pathway from acetyl coenzyme A and cholesterol. Certain steps of their subsequent synthesis also occur in the placenta, in the liver and in other tissues. Several hereditary enzyme defects are known. Many more are theoretically possible, but have not yet been described. Best known are those of the adrenal steroids which cause adrenal insufficiency and the adrenogenital syndrome, and those of testosterone which cause male pseudohermaphroditism, i.e. incomplete prenatal differentiation of the male genitalia. Certain defects have also been described in other tissues. Interestingly, hardly anything is known about hereditary defects of the ovarian steroids.

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Authors
  1. A. Prader
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  2. M. Zachmann
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Editors and Affiliations

  1. University Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, G3 8SJ, UK

    Forrester Cockburn

  2. Division of Metabolism, University Paediatric Department, Kinderspital, 8032, Zurich, Switzerland

    Richard Gitzelmann

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© 1982 The Society for the Study of Inborn Errors of Metabolism

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Prader, A., Zachmann, M. (1982). Hereditary defects of steroid biosynthesis. In: Cockburn, F., Gitzelmann, R. (eds) Inborn Errors of Metabolism in Humans. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-7325-1_5

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  • DOI: https://doi.org/10.1007/978-94-009-7325-1_5

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-009-7327-5

  • Online ISBN: 978-94-009-7325-1

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