Defects of steroidogenesis

J Endocrinol Invest. 2010 Nov;33(10):756-66. doi: 10.1007/BF03346683. Epub 2010 Feb 24.

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.

Publication types

  • Review

MeSH terms

  • Animals
  • Cholesterol / metabolism
  • Disorders of Sex Development / etiology
  • Endocrine System Diseases / etiology
  • Endocrine System Diseases / genetics
  • Endocrine System Diseases / metabolism
  • Female
  • Gonadal Steroid Hormones / biosynthesis*
  • Gonadal Steroid Hormones / deficiency*
  • Gonadal Steroid Hormones / genetics
  • Humans
  • Lipid Metabolism / genetics
  • Male
  • Models, Biological
  • Steroids / biosynthesis*
  • Water-Electrolyte Imbalance / etiology

Substances

  • Gonadal Steroid Hormones
  • Steroids
  • Cholesterol