Skip to main content

Abstract

The adrenal cortex play key roles in regulating intermediary metabolism, fluid and electrolyte balance, and the response to stress. Molecular analyses of specific disorders resulting from either the diminished or enhanced production/action of corticos-teroids have led to the identification of a number of genes that play key roles in adrenal function and corticosteroid action. These genes provide potential targets for novel therapies that may revolutionize our approaches to these rare adrenal diseases. In addition, understanding the molecular causes of these diseases has provided important insights into basic adrenal functions that may translate into improved therapy of more common disorders such as hypertension and obesity.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 269.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 349.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Selected References

  • Bonny O, Rossier BC. Disturbances of Na/K balance: pseudohypoaldo-steronism revisited. J Am Soc Nephrol 2002;13:2399–2414.

    Article  PubMed  CAS  Google Scholar 

  • Bray PJ, Cotton RG. Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. Hum Mutat 2003;21:557–568.

    Article  PubMed  CAS  Google Scholar 

  • Casey M, Vaughan CJ, He J, et al. Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest 2000;106:R31–R38.

    Article  PubMed  CAS  Google Scholar 

  • Chang SS, Grunder S, Hanukoglu A, et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acido-sis, pseudohypoaldosteronism type 1. Nat Genet 1996;12:248–253.

    Article  PubMed  CAS  Google Scholar 

  • Clark AJL, Weber A. Adrenocorticotropin insensitivity syndromes. Endocr Rev 1998;5:828–843.

    Article  Google Scholar 

  • Clipsham R, McCabe ER. DAX1 and its network partners: exploring complexity in development. Mol Genet Metab 2003;80:81–120.

    Article  PubMed  CAS  Google Scholar 

  • Funder JW. Glucocorticoid and mineralocorticoid receptors: biology and clinical relevance. Annu Rev Med 1997;48:231–240.

    Article  PubMed  CAS  Google Scholar 

  • Geller DS, Farhi A, Pinkerton N, et al. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 2000; 289:23–26.

    Article  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Hammer GD, Parker KL, Schimmer BP. Minireview: transcriptional regulation of adrenocortical development. Endocrinology 2005;146: 1018–1024.

    Article  PubMed  CAS  Google Scholar 

  • Kino T, Chrousos GP Glucocorticoid and mineralocorticoid resistance syndromes. J Endocrinol 2001;169:437–445.

    Article  PubMed  CAS  Google Scholar 

  • Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000;26:89–92.

    Article  PubMed  CAS  Google Scholar 

  • Malchoff CD, Malchoff DM. Glucocorticoid resistance and hypersensitivity. Endocrinol Metab Clin North Am 2005;34:315–326.

    Article  PubMed  CAS  Google Scholar 

  • McMahon GT, Dluhy RG. Glucocorticoid-remediable aldosteronism. Cardiol Rev 2004;12:44–48.

    Article  PubMed  Google Scholar 

  • Moneva MH, Gomez-Sanchez CE. Pathophysiology of adrenal hypertension. Semin Nephrol 2002;22:44–53.

    PubMed  CAS  Google Scholar 

  • Parker KL, Schimmer BP. Steroidogenic factor 1: a key determinant of endocrine development and function. Endocr Rev 1997;18:361–377.

    Article  PubMed  CAS  Google Scholar 

  • Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001;86: 4041–4046.

    Article  PubMed  CAS  Google Scholar 

  • Tulio-Pelet A, Salomon R, Hadj-Rabia S, et al. Mutant WD-repeat protein in Triple-A syndrome. Nat Genet 2000;26:332–335.

    Article  CAS  Google Scholar 

  • Wilson RC, Nimkarn S, New MI. Apparent mineralocorticoid excess. Trends Endocrinol Metab 2001;12:104–111.

    Article  PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Humana Press Inc.

About this chapter

Cite this chapter

Auchus, R.J., Rainey, W.E., Parker, K.L. (2006). Adrenal Diseases. In: Runge, M.S., Patterson, C. (eds) Principles of Molecular Medicine. Humana Press. https://doi.org/10.1007/978-1-59259-963-9_38

Download citation

  • DOI: https://doi.org/10.1007/978-1-59259-963-9_38

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-202-5

  • Online ISBN: 978-1-59259-963-9

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics