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Kimura T, Hayashi Y, Tsukamoto Y, et al. The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone. Case Rep Endocrinol. 2018;2018:4081769doi: 10.1155/2018/4081769.
Kimura, T., Hayashi, Y., Tsukamoto, Y., & Okamoto, Y. (2018). The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone. Case reports in endocrinology, 20184081769. https://doi.org/10.1155/2018/4081769
Kimura, Tetsuya, et al. "The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone." Case reports in endocrinology vol. 2018 (2018): 4081769. doi: https://doi.org/10.1155/2018/4081769
Kimura T, Hayashi Y, Tsukamoto Y, Okamoto Y. The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone. Case Rep Endocrinol. 2018 Dec 31;2018:4081769. doi: 10.1155/2018/4081769. eCollection 2018. PMID: 30693116; PMCID: PMC6332952.
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Case Rep Endocrinol. 2018 Dec 31;2018:4081769. doi: 10.1155/2018/4081769. eCollection 2018.

The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone.

Case reports in endocrinology

Tetsuya Kimura, Yoshitaka Hayashi, Yuka Tsukamoto, Yasuyuki Okamoto

Affiliations

  1. Okamoto Thyroid Clinic, Asahi-ku, Osaka 535-0031, Japan.
  2. Research Institute of Environmental Medicine, Nagoya University, Aichi 464-8601, Japan.

PMID: 30693116 PMCID: PMC6332952 DOI: 10.1155/2018/4081769

Abstract

A 31-year-old Japanese male patient with a history of atrial fibrillation showed elevated serum levels of free thyroxine and triiodothyronine and a normal level of thyrotropin. The same abnormal hormone pattern was also found in his son. These data indicated that the index patient and the son have thyroid hormone resistance syndrome. Exon sequencing using DNA from these two patients revealed that both patients harbored a heterozygous mutation in the THRB gene: G1244C in exon 9, which results in R320P substitution. Therefore, thyroid hormone resistance syndrome caused by THRB mutation (RTH

References

  1. Physiol Rev. 2001 Jul;81(3):1097-142 - PubMed
  2. J Pediatr. 2003 Sep;143(3):296-301 - PubMed
  3. Am J Hum Genet. 2004 Jan;74(1):168-75 - PubMed
  4. Lancet. 2004 Oct 16-22;364(9443):1435-7 - PubMed
  5. Nat Genet. 2005 Nov;37(11):1247-52 - PubMed
  6. Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):1 - PubMed
  7. Endocr Rev. 2010 Apr;31(2):139-70 - PubMed
  8. N Engl J Med. 2012 Jan 19;366(3):243-9 - PubMed
  9. N Engl J Med. 2012 Apr 12;366(15):1451-3 - PubMed
  10. J Clin Endocrinol Metab. 2014 Mar;99(3):768-70 - PubMed
  11. Clin Diabetes Endocrinol. 2017 Sep 15;3:8 - PubMed
  12. J Clin Endocrinol Metab. 1967 Feb;27(2):279-94 - PubMed
  13. Clin Endocrinol (Oxf). 1994 May;40(5):697-700 - PubMed
  14. J Clin Invest. 1994 Aug;94(2):506-15 - PubMed
  15. J Clin Invest. 1993 Jun;91(6):2408-15 - PubMed

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