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Abstract

The thyroid is controlled by a classic hypothalamic-pituitary axis. The thyroid gland evolves from two distinct embryological structures. Thyroid disorders can broadly be divided into disorders of function or growth. The two alterations may occur independently or in combination. For example, in patients with Graves’ disease, the thyroid is typically diffusely enlarged and secretes excessive amounts of thyroid hormone. This chapter gives an overview on the variety of defects affecting thyroid function and growth at all levels of the axis.

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Selected References

  • Bianco AC, Salvatore D, Gereben B, Berry MJ, Larsen PR. Biochemistry,cellular, and molecular biology, and physiological roles of the iodothy-ronineselenodeiodinases. Endocr Rev 2002;23:38–89.

    Article  PubMed  CAS  Google Scholar 

  • Cohen LE, Radovick S. Molecular basis of combined pituitary hormone deficiencies. Endocr Rev 2002;23:431–442.

    Article  PubMed  CAS  Google Scholar 

  • Dias Da Silva MR, Cerutti JM, Arnaldi LA, Maciel RM. A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. J Clin Endocrinol Metab 2002;87:4881–4884.

    Article  Google Scholar 

  • Dohan O, De la Vieja A, Paroder V, et al. The sodium/iodide symporter (NIS): characterization, regulation, and medical significance. Endocr Rev 2003;24:48–77.

    Article  PubMed  CAS  Google Scholar 

  • Dumitrescu AM, Liao XH, Best TB, Brockman K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genetics 2004;74:168–175.

    Article  CAS  Google Scholar 

  • Fagin J. Perspective: lessons learned from molecular genetic studies of thyroid cancer-insights into pathogenesis and tumor-specific therapeutic targets. Endocrinology 2002; 143:2025–2028.

    Article  PubMed  CAS  Google Scholar 

  • Fagin JA. How thyroid tumors start and why it matters: kinase mutants as targets for solid cancer pharmacotherapy. J Endocrinol 2004; 183: 249–256.

    Article  PubMed  CAS  Google Scholar 

  • Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 2003; 18:18.

    Google Scholar 

  • Gillam MP, Kopp P. Genetic defects in thyroid hormone synthesis. Curr Opin Pediatr 2001;13:364–372.

    Article  PubMed  CAS  Google Scholar 

  • Gillam MP, Kopp P. Genetic regulation of thyroid development. Curr Opin Pediatr 2001;13:358–363.

    Article  PubMed  CAS  Google Scholar 

  • Jameson JL. Mechanisms of thyroid hormone action. In: DeGroot L, Jameson J, eds. Endocrinology. Philadelphia: WB Saunders, 2001; pp.1327–1344.

    Google Scholar 

  • Krude H, Schutz B, Biebermann H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002; 109:475–480.

    Article  PubMed  CAS  Google Scholar 

  • Liu YY, Schultz JJ, Brent GA. A thyroid hormone receptor alpha gene mutation (P398H) is associated with visceral adiposity and impaired catecholamine-stimulated lipolysis in mice. J Biol Chem 2003; 16:16.

    Google Scholar 

  • Marians RC, Ng L, Blair HC, Unger P, Graves PN, Davies TF. Defining thyrotropin-dependent and-independent steps of thyroid hormone synthesis by using thyrotropin receptor-null mice. Proc Natl Acad Sci USA 2002;99:15,776–15,781.

    Article  PubMed  CAS  Google Scholar 

  • Moreno JC, Bikker H, Kempers MJE, et al. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 2002;347:95–102.

    Article  PubMed  CAS  Google Scholar 

  • O’Shea PJ, Williams GR. Insight into the physiological actions of thyroid hormone receptors from genetically modified mice. J Endocrinol 2002;175:553–570.

    Article  PubMed  CAS  Google Scholar 

  • Pohlenz J, Dumitrescu A, Zundel D, et al. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002;109:469–473.

    Article  PubMed  CAS  Google Scholar 

  • Postiglione MP, Parlato R, Rodriguez-Mallon A, et al. Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland. Proc Natl Acad Sci USA 2002;99: 15,462–15,467.

    Article  PubMed  CAS  Google Scholar 

  • Refetoff S, Dumont J, Vassart G. Thyroid disorders. In: Sriver CR, Beaudet AL, Sly WS, Valle D, Childs B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed., vol. 3. New York: McGraw-Hill, 2001, pp. 4029–4075.

    Google Scholar 

  • Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev, 1993;14:348–399.

    Article  PubMed  CAS  Google Scholar 

  • Tomer Y. Genetic dissection of familial autoimmune thyroid diseases using whole genome screening. Autoimmun Rev 2002;1:198–204.

    Article  PubMed  CAS  Google Scholar 

  • Vaidya B, Kendall-Taylor P, Pearce SH. The genetics of autoimmune thyroid disease. J Clin Endocrinol Metab 2002;87:5385–5397.

    Article  PubMed  CAS  Google Scholar 

  • Wagner RL, Apriletti JW, McGrath ME, et al. A structural role for hormone in the thyroid hormone receptor. Nature 1995;378:690–697.

    Article  PubMed  CAS  Google Scholar 

  • Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001;22:675–705.

    Article  PubMed  CAS  Google Scholar 

  • Yen PM. Molecular basis of resistance to thyroid hormone. Trends Endocrinol Metab 2003;14:327–333.

    Article  PubMed  CAS  Google Scholar 

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© 2006 Humana Press Inc.

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Kopp, P. (2006). Thyroid Disorders. In: Runge, M.S., Patterson, C. (eds) Principles of Molecular Medicine. Humana Press. https://doi.org/10.1007/978-1-59259-963-9_35

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  • DOI: https://doi.org/10.1007/978-1-59259-963-9_35

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-202-5

  • Online ISBN: 978-1-59259-963-9

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