Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: Consequences of LT4 treatment

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 7, 2013, Pages 3029-3038

  Van Mullem, Alies A ^a   Chrysis, Dionisios ^b   Eythimiadou, Alexandra ^b   Chroni, Elizabeth ^b   Tsatsoulis, Agathocles ^c   De Rijke, Yolanda B ^a   Visser, W Edward ^a   Visser, Theo J ^a   Peeters, Robin P ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF PATRAS   (Greece)

^c UNIVERSITY OF IOANNINA   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; LEVOTHYROXINE; LIOTHYRONINE; SEX HORMONE BINDING GLOBULIN; SOMATOMEDIN C; THYROTROPIN;

ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHILD; CLINICAL FEATURE; COGNITIVE DEFECT; CONSTIPATION; DISEASE ASSOCIATION; DRUG EFFECT; DRUG RESPONSE; FEMALE; FUNCTIONAL ASSESSMENT; GENE; GENE MUTATION; HUMAN; HYPOTHYROIDISM; LIOTHYRONINE RECEPTOR ALPHA1 GENE; MALE; NERVE CONDUCTION; OUTCOME ASSESSMENT; PATIENT ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCHOOL CHILD; THYROID FUNCTION TEST; THYROID HORMONE RESISTANCE;

CHILD; CONSTIPATION; DRUG RESISTANCE; DYSLIPIDEMIAS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; NEURAL CONDUCTION; THYROID HORMONE RECEPTORS ALPHA; THYROID HORMONE RESISTANCE SYNDROME; THYROID HORMONES; THYROXINE; TREATMENT OUTCOME;

EID: 84879994549     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-1050     Document Type: Article

References (41)

1. Zoeller RT, Tan SW, Tyl RW. General background on the hypothalamic-pituitary-thyroid (HPT) axis. Crit Rev Toxicol. 2007;37:11-53.
2. Zhang J, Lazar MA. The mechanism of action of thyroid hormones. Annu Rev Physiol. 2000;62:439-466. (Pubitemid 30618270)
3. Cheng SY, Leonard JL, Davis PJ. Molecular aspects of thyroid hormone actions. Endocr Rev. 2010;31:139-170.
4. Cheng SY. Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance. Trends Endocrinol Metab. 2005;16:176-182.
5. Nunez J, Celi FS, Ng L, Forrest D. Multigenic control of thyroid hormone functions in the nervous system. Mol Cell Endocrinol. 2008;287:1-12.
6. Abel ED, Boers ME, Pazos-Moura C, et al. Divergent roles for thyroid hormone receptor beta isoforms in the endocrine axis and auditory system. J Clin Invest. 1999;104:291-300.
7. Mitchell CS, Savage DB, Dufour S, et al. Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia. J Clin Invest. 2010;120:1345-1354.
8. Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007;21:277-305. (Pubitemid 46888195)
9. Bochukova E, Schoenmakers N, Agostini M, et al. A mutation in the thyroid hormone receptor α gene. N Engl J Med. 2012;366:243-249.
10. van Mullem A, van Heerebeek R, Chrysis D, et al. Clinical phenotype and mutant TRα1. N Engl J Med. 2012;366:1451-1453.
11. Ng L, Forrest D, Haugen BR, Wood WM, Curran T. N-terminal variants of thyroid hormone receptor β: differential function and potential contribution to syndrome of resistance to thyroid hormone. Mol Endocrinol. 1995;9:1202-1213.
12. Gereben B, Zavacki AM, Ribich S, et al. Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling. Endocr Rev. 2008;29:898-938.
13. Schneider MJ, Fiering SN, Pallud SE, Parlow AF, St Germain DL, Galton VA. Targeted disruption of the type 2 selenodeiodinase gene (DIO2) results in a phenotype of pituitary resistance to T4. Mol Endocrinol. 2001;15:2137-2148. (Pubitemid 33141133)
14. Gullberg H, Rudling M, Salto C, Forrest D, Angelin B, Vennstrom B. Requirement for thyroid hormone receptor β in T3 regulation of cholesterol metabolism in mice. Mol Endocrinol. 2002;16:1767-1777. (Pubitemid 34828087)
15. Brent GA. Mechanisms of thyroid hormone action. J Clin Invest. 2012;122:3035-3043.
16. Schoenmakers N, Moran C, Peeters RP, Visser T, Gurnell M, Chatterjee K. Resistance to thyroid hormone mediated by defective thyroid hormone receptor α. Biochim Biophys Acta. 2013;1830:4004-4008.
17. Langlois MF, Zanger K, Monden T, Safer JD, Hollenberg AN, Wondisford FE. A unique role of the β-2 thyroid hormone receptor isoform in negative regulation by thyroid hormone. Mapping of a novel amino-terminal domain important for ligand-independent activation. J Biol Chem. 1997;272:24927-24933. (Pubitemid 27415668)
18. Bianco AC, Salvatore D, Gereben B, Berry MJ, Larsen PR. Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases. Endocr Rev. 2002;23:38-89. (Pubitemid 34185306)
19. Kuiper GG, Kester MH, Peeters RP, Visser TJ. Biochemical mechanisms of thyroid hormone deiodination. Thyroid. 2005;15:787-798. (Pubitemid 41339259)
20. Kohrle J. The selenoenzyme family of deiodinase isozymes controls local thyroid hormone availability. Rev Endocr Metab Disord. 2000;1:49-58.
21. Kaneshige M, Suzuki H, Kaneshige K, et al. A targeted dominant negative mutation of the thyroid hormone α 1 receptor causes increased mortality, infertility, and dwarfism in mice. Proc Natl Acad Sci USA. 2001;98:15095-15100. (Pubitemid 34013975)
22. Zavacki AM, Ying H, Christoffolete MA, et al. Type 1 iodothyronine deiodinase is a sensitive marker of peripheral thyroid status in the mouse. Endocrinology. 2005;146:1568-1575. (Pubitemid 40289348)
23. Peeters RP, Wouters PJ, van Toor H, Kaptein E, Visser TJ, Van den Berghe G. Serum 3,3′,5′-triiodothyronine (rT3) and 3,5,3′- triiodothyronine/rT3 are prognostic markers in critically ill patients and are associated with postmortem tissue deiodinase activities. J Clin Endocrinol Metab. 2005;90:4559-4565. (Pubitemid 41159343)
24. Barca-Mayo O, Liao XH, Alonso M, et al. Thyroid hormone receptor α and regulation of type 3 deiodinase. Mol Endocrinol. 2011;25:575-583.
25. Macchia PE, Takeuchi Y, Kawai T, et al. Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor α. Proc Natl Acad Sci USA. 2001;98:349-354. (Pubitemid 32095912)
26. Hussain MA, Schmitz O, Jorgensen JO, et al. Insulin-like growth factor I alters peripheral thyroid hormone metabolism in humans: comparison with growth hormone. Eur J Endocrinol. 1996;134:563-567. (Pubitemid 26188526)
27. Ladenson PW, Kristensen JD, Ridgway EC, et al. Use of the thyroid hormone analogue eprotirome in statin-treated dyslipidemia. N Engl J Med. 2010;362:906-916.
28. Burstein PJ, Draznin B, Johnson CJ, Schalch DS. The effect of hypothyroidism on growth, serum growth hormone, the growth hormone-dependent somatomedin, insulin-like growth factor, and its carrier protein in rats. Endocrinology. 1979;104:1107-1111. (Pubitemid 9179162)
29. Selva DM, Hammond GL. Thyroid hormones act indirectly to increase sex hormone-binding globulin production by liver via hepatocyte nuclear factor-4α. J Mol Endocrinol. 2009;43:19-27.
30. Griffiths PD. Serum enzymes in diseases of the thyroid gland. J Clin Pathol. 1965;18:660-663.
31. Graig FA, Smith JC. Serum creatine phosphokinase activity in altered thyroid states. J Clin Endocrinol Metab. 1965;25:723-731.
32. Kececi H, Degirmenci Y. Hormone replacement therapy in hypothyroidism and nerve conduction study. Neurophysiol Clin. 2006;36:79-83. (Pubitemid 44038377)
33. Mittag J, Davis B, Vujovic M, Arner A, Vennstrom B. Adaptations of the autonomous nervous system controlling heart rate are impaired by a mutant thyroid hormone receptor-α1. Endocrinology. 2010;151:2388-2395.
34. Bernal J, Pekonen F. Ontogenesis of the nuclear 3,5,3′- triiodothyronine receptor in the human fetal brain. Endocrinology. 1984;114:677-679. (Pubitemid 14183276)
35. Bradley DJ, Towle HC, Young WS 3rd. Spatial and temporal expression of α- and β-thyroid hormone receptor mRNAs, including the β 2-subtype, in the developing mammalian nervous system. J Neurosci. 1992;12:2288-2302.
36. Santisteban P, Bernal J. Thyroid development and effect on the nervous system. Rev Endocr Metab Disord. 2005;6:217-228. (Pubitemid 41285599)
37. Venero C, Guadano-Ferraz A, Herrero AI, et al. Anxiety, memory impairment, and locomotor dysfunction caused by a mutant thyroid hormone receptor α1 can be ameliorated by T3 treatment. Genes Dev. 2005;19:2152-2163. (Pubitemid 41330317)
38. Tudhope GR, Wilson GM. Anaemia in hypothyroidism. Incidence, pathogenesis, and response to treatment. Q J Med. 1960;29:513-537.
39. Mehmet E, Aybike K, Ganidagli S, Mustafa K. Characteristics of anemia in subclinical and overt hypothyroid patients. Endocr J. 2012;59:213-220.
40. -/- mice. Blood. 2008;111:3245-3248.
41. Wojcicka A, Bassett JH, Williams GR. Mechanisms of action of thyroid hormones in the skeleton. Biochim Biophys Acta. 2013;1870:3979-3986.