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Definition

Two adrenal corticosteroids, the mineralocorticoid aldosterone and the glucocorticoid cortisol, exert profound influences on many physiological functions by virtue of their diverse roles in growth, development and maintenance of homeostasis. Their actions are mediated by intracellular receptor proteins, the glucocorticoid (GR) and mineralocorticoid (MR) receptors, which function as hormone-activated transcription factors that regulate the expression of, respectively, the glucocorticoid and mineralocorticoid target genes.

Characteristics

GR is ubiquitously expressed in almost all human tissues and organs. The presence of glucocorticoids is crucial for the integrity of CNS function and for maintenance of cardiovascular, metabolic and immune homeostasis. Increased glucocorticoid secretion during stress alters CNS function, assists with adjustments in energy expenditures and modulates the inflammatory/immune response. Since glucocorticoids possess a broad array of...

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References

  1. Kino T, De Martino MU, Charmandari E et al (2003) Tissue glucocorticoid resistance/hypersensitivity syndromes. J Steroid Biochem Mol Biol 85:457–467

    PubMed  CAS  Google Scholar 

  2. Ruiz M, Lind U, Gafvels M et al (2001) Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. Clin Endocrinol (Oxf) 55:363–371

    CAS  Google Scholar 

  3. Chrousos GP, Olefsky JM, Samols E (2002) Hormone Resistance and Hypersensitivity States. In: Modern Endocrinology Series. Lippincott, Williams and Wilkins Publ. Co., Philadelphia, PA

    Google Scholar 

  4. Geller DS, Rodriguez-Soriano J, Vallo Boado A et al (1998) Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 19:279–281

    PubMed  CAS  Google Scholar 

  5. Tajima T, Kitagawa H, Yokoya S et al (2000) A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 85:4690–4694

    PubMed  CAS  Google Scholar 

  6. Viemann M, Peter M, Lopez-Siguero JP et al (2001) Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J Clin Endocrinol Metab 86:2056–2059

    PubMed  CAS  Google Scholar 

  7. Geller DS, Farhi A, Pinkerton N et al (2000) Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 289:119–123

    PubMed  CAS  Google Scholar 

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Correspondence to Tomoshige Kino or George P. Chrousos .

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© 2006 Springer-Verlag

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Kino, T., Chrousos, G.P. (2006). Steroid Hormone Receptor Defects, Molecular Basis. In: Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine. Springer, Berlin, Heidelberg . https://doi.org/10.1007/3-540-29623-9_0970

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