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, which rarely are associated with evidence of endocrine dysfunction. However, most clinically relevant endocrine disorders are associated with over- 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.
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Bell GI, Froguel P, Nishi S, et al. Mutations of the human glucokinase gene and diabetes mellitus. Trends Endocrinol Metab 1993;4:86.
Braunstein GD. Ectopic hormone production. In: Felig P, Baxter JD, Frohman LA, eds. Endocrinology and Metabolism, 3rd Ed. New York, NY: McGraw-Hill 1995:1733–1783.
Brent GA. The molecular basis of thyroid hormone action. N Engl J Med 1994;331:847.
Cohen L, Radovik S. Molecular basis of combined pituitary hormone deficiencies. Endocr Rev 2002; 23:431–442.
Garg A. Lipodystrophies. Am J Med 2000; 108:143–152.
Gershenghorn M, Osman R. Insights into G protein-coupled receptor function using molecular models. Endocrinology 2001;142:2–10.
Gurnell M, Savage DB, Chatterjee KK, O’Rahilly S. The metabolic syndrome: peroxisome proliferator-activated receptor γ and its therapeutic modulation. J ClinEndocrinolMetab 2003;88:2412–2421.
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.
Heaney AP, Melmed S. Molecular pathogenesis of pituitary tumors. In: Wass JAH, Shalet SM, eds. Oxford Textbook of Endocrinology. Oxford, UK: Oxford University Press 2002; 109–120.
Jameson JL. Applications of molecular biology in endocrinology. In: DeGroot LT, et al., eds. Endocrinology, 3rd Ed. Philadelphia, PA: W.B. Saunders 1995:119–147.
Kopp R, van Sande J, Parma J, et al. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 1995;332:150.
Leo CP, Hsu SY, Hsueh AJW. Hormonal genomics. Endocr Rev 2003;23:369–381.
Ludgate ME, Vassart G. The thyrotropin receptor as a model to illustrate receptor and receptor antibody diseases. Clin Endocrinol Metab 1995;9:95.
Moreno JC, de Vijlder JJM, Vulsma T, Ris-Staplers C. Genetic basis of hypothyroidism: recent advances, gaps and strategies for future research. Pediatr Endocrinol 2003;14:318–326.
Nielsen S, Frokiaer J, Marples D, Kwon TH, Agre P, Knepper MA. Aquaporins in the kidney: from molecules to medicine. Physiol Rev 2002;82:205–244.
Oral EA. Lipoatrophic diabetes and other related syndromes. Rev Endocr Metab Disord 2003;4:61–77.
Schwindinger WF, Levine MA. McCune-Albright syndrome. Trends Endocrinol Metab 1993;4:238.
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.
Silveira LFG, MacColl GS, Bouloux PMG. Hypogonadotropic hypogonadism. Semin Reprod Med 2002;20:327–338.
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.
Stewart PM. The adrenal cortex. In: Larsen PR, Kronenberg HM, Melmed S, Polonsky KS, eds. Williams Textbook of Endocrinology, 10th Ed. Philadelphia, PA: Saunders 2003:491–551.
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.
Taylor SI, Cama A, Kadowaki H, Kadowaki T, Accili D. Mutations of the human insulin receptor gene. Trends Endocrinol Metab 1990;1:134.
Vaisse C, Clement K, Durand E, et al. Melanocortin-4 receptor mutations are a frequent and heterogenous cause for morbid obesity. J Clin Invest 2000;106:185–187.
Veniant MM, LeBel CP. Leptin: from animals to humans. Curr Pharm Des 2003;9:811–818.
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© 2005 Humana Press Inc., Totowa, NJ
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Heaney, A.P., Braunstein, G.D. (2005). Endocrine Disease. In: Melmed, S., Conn, P.M. (eds) Endocrinology. Humana Press. https://doi.org/10.1007/978-1-59259-829-8_15
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DOI: https://doi.org/10.1007/978-1-59259-829-8_15
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