Advertisement

Endocrinology pp 249-268 | Cite as

Endocrine Disease

Value for Understanding Hormonal Actions
  • Glenn D. Braunstein

Abstract

Disorders involving the endocrine glands, their hormones, and the targets of the hormones may cover the full spectrum ranging from an incidentally found, insignificant abnormality that is clinically silent to a flagrant, life-threatening metabolic derangement. Some endocrine diseases, such as well-differentiated thyroid carcinoma, present as neoplastic growths that rarely are associated with evidence of endocrine dysfunction. However, most clinically relevant endocrine disorders are associated with overexpression or underexpression of hormone action. There is a great deal of phenotypic variability in the clinical manifestations of each of the endocrine disorders reflecting in part the severity of the derangement and the underlying pathophysiologic mechanisms. Although most of the individual clinical endocrine syndromes have multiple pathophysiologic mechanisms, the qualitative manifestations of the disease states are similar owing to the relatively limited ways in which the body responds to too much or too little hormone action.

Keywords

Thyroid Hormone Adrenal Insufficiency Congenital Adrenal Hyperplasia Precocious Puberty Nephrogenic Diabetes Insipidus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Jameson JL. Applications of molecular biology in endocrinology. In: DeGroot et al., eds. Endocrinology, 3rd ed. Philadelphia: W.B. Saunders, 1995: 119.Google Scholar

Suggested Readings

  1. Bell GI, Froguel P, Nishi S, et al. Mutations of the human glucokinase gene and diabetes mellitus. Trends Endocrinol Metab 1993; 4: 86.PubMedCrossRefGoogle Scholar
  2. Braunstein GD. Ectopic hormone production. In: Felig P, Baxter JD, Frohman LA, eds. Endocrinology and Metabolism, 3rd ed. New York: McGraw-Hill, 1995: 1733.Google Scholar
  3. Brent GA. The molecular basis of thyroid hormone action. N Engl J Med 1994; 331: 847.PubMedCrossRefGoogle Scholar
  4. Clapham DE. Why testicles are cool. Nature 1994; 371: 109.PubMedCrossRefGoogle Scholar
  5. Clark AJL, Weber A. Molecular insights into inherited ACTH resistance syndromes. Trends Endocrinol Metab 1994; 5: 209.PubMedCrossRefGoogle Scholar
  6. Garvey WT, Birnbaum MJ. Cellular insulin action and insulinresistance. Clin Endocrinol Metab 1993; 7: 785.Google Scholar
  7. Haavisto A-M, Pettersson K, Bergendahl M, Virkamaki A, Huhtaniemi I. Occurrence and biological properties of a common genetic variant of luteinizing hormone. J Clin Endocrinol Metab 1995; 80: 1257.PubMedCrossRefGoogle Scholar
  8. Haugen BR, Ridgway EC. Transcription factor Pit-1 and its clinical implications: From bench to bedside. Endocrinologist 1995; 5: 132.CrossRefGoogle Scholar
  9. Herman-Bonert V, Fagin JA. Molecular pathogenesis of pituitary tumors. Clin Endocrinol Metab 1995; 9: 203.Google Scholar
  10. Knoers N VAM. Molecular characterization of nephrogenic dia- betes insipidus. Trends Endocrinol Metab 1994; 10: 422.Google Scholar
  11. Kopp R, van Sande J, Parma J, et al. Brief report: Congenital hyperthyroidism caused by a mutation in the thyrotropinreceptor gene. N Engl J Med 1995; 332: 150.PubMedCrossRefGoogle Scholar
  12. Ludgate ME, Vassart G. The thyrotropin receptor as a model to illustrate receptor and receptor antibody diseases. Clin Endocrinol Metab 1995; 9: 95.Google Scholar
  13. Schwindinger WF, Levine MA. McCune-Albright syndrome. Trends Endocrinol Metab 1993; 4: 238.PubMedCrossRefGoogle Scholar
  14. Shenker A, Laue L, Kosugi S, Merendine JJ, Minegishi T, Cutler GB. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 1993; 365: 652.PubMedCrossRefGoogle Scholar
  15. Smith EP, Boyd J, Frank GR et al. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med 1994; 331: 1056.PubMedCrossRefGoogle Scholar
  16. Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 1995; 332: 155.CrossRefGoogle Scholar
  17. Taylor SI, Cama A, Kadowaki H, Kadowaki T, Accili D. Mutations of the human isnulin receptor gene. Trends Endocrinol Metab 1990; 1: 134.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1997

Authors and Affiliations

  • Glenn D. Braunstein

There are no affiliations available

Personalised recommendations