Abstract
Resistance syndrome to thyroid hormone (RTH) is a rare autosomal dominant disease that is characterized by decreased tissue responsiveness to thyroid hormone, and it is mainly due to mutations of the thyroid hormone receptor β (THRB) gene. We report here on a 36-years old male who had mild thyroid goiter and general weakness. The thyroid function test showed elevated levels of total T3 and free T4. The levels of TSH and the free α subunit were in normal ranges. Mutation analysis of the THRB gene revealed the missense mutation G345D. We report here on the clinical features and THRB gene mutation analysis of a case of RTH.
Figures and Tables
Fig. 1
Thyroid scintigraphy with pertechnetate shows cold nodules in both lobes of thyroid and diffuse enlarged both lobes with homogenously increased trapping.
![jkes-22-277-g001](/upload/SynapseData/ArticleImage/0008jkes/jkes-22-277-g001.jpg)
Fig. 2
Sellar MRI shows normal size and normal signal intensity of pituitary gland, intact optic chiasm and cavernous sinus.
![jkes-22-277-g002](/upload/SynapseData/ArticleImage/0008jkes/jkes-22-277-g002.jpg)
Fig. 3
Sequencing analysis of the thyroid hormone receptor beta gene in a Korean patient with syndrome of resistance to thyroid hormone; sequencing analysis confirmed a heterozygous missense mutation in exon 9 and the amino acid alteration was substitution of a glycine (GGT) for a aspartic acid (GAT) at codon 345.
![jkes-22-277-g003](/upload/SynapseData/ArticleImage/0008jkes/jkes-22-277-g003.jpg)
References
1. Refetoff S. Syndromes of thyroid hormone resistance. Am J Physiol. 1982. 243:E88–E98.
2. Persani L, Asteria C, Tonacchera M, Vitti P, Krishna V, Chatterjee K, Beck-Peccoz P. Evidence for the secretion of thyrotroph with enhanced bioactivity in syndromes of thyroid hormone resistance. J Clin Endocrinol Metab. 1994. 78:1034–1039.
3. Weiss RE, Refetoff S. Resistance to thyroid hormone. Endocr Rev. 2000. 1:97–108.
4. Weinberger C, Thompson CC, Ong ES, Lebo R, Gruol DJ, Evans RM. The c-erb-A gene encodes a thyroid hormone receptor. Nature. 1986. 324:641–646.
5. Weintraub BD, Menezes-Ferreira MM, Petrick PA. Inappropriate secretion of TSH. Endocr Res. 1989. 15:601–617.
6. Takeda K, Weiss RE, Refetoff S. Rapid localization of mutations in the thyroid hormone receptor-β gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab. 1992. 74:712–719.
7. Refetoff S, Salazar A, Smith TJ, Scherberg NH. The consequences of inappropriate treatment because of failure to recognize to thyroid hormone. Metabolism. 1983. 32:822–834.
8. Weiss RE. Management of patient with resistance to thyroid hormone. Thyroid Today. 1999. 12:1–11.
9. Yun YS, Hong SK, Ahn CW, Nam JH, Park SW, Cha BS, Song YD, Lee EJ, Lim SK, Kim KR, Lee HC, Huh KB. Mutations in thyroid hormone receptor-β associated with patients with generalized resistance and pituitary resistance to thyroid hormone. J Kor Soc Endocrinol. 2000. 15:113–120.
10. Hwang JK, Kim KW, Kim TY, Kim SW, Park YJ, Park DJ, Kim SY, Lee HK, Cho BY. A case of syndrome of resistance to thyroid hormone associated with mutation (M313T) in thyroid hormone receptor beta gene. J Kor Soc Endocrinol. 2003. 18:206–213.
11. Sato H, Sakai H. A family showing resistance to thyroid hormone associated with chronic thyroiditis and its clinical features: a case report. Endocrine J. 2006. 53:421–425.
12. Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S. Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Enodcrinol Metab. 2006. 91:3471–3477.
13. Pohlenz J, Wildthardt G, Zabel B, Wildgerodt H. Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene. Thyroid. 1997. 7:39–41.
14. Weiss RE, Tunca H, Gerstein HC, Refetoff S. A new mutation in the TR beta gene (V458A) in a family with resistance to thyroid hormone. Thyroid. 1996. 6:311–312.
15. Refetoff S, Weiss RE, Usala SJ. The RTH. Endocr Rev. 1993. 14:348–399.
16. Beck-Peccoz P, Piscitelli G, Cattaneo MG, Faglia G. Successful treatment of hyperthyroidism due to nonneoplastic pituitary TSH hypersecretion with 3,5,3'-triiodothyroacetic acid. J Endocrinol Invest. 1983. 6:217–223.