Almeda-Valdés P, Pérez-Enríquez B, Cuevas-Ramos D, Pérez-Díaz I, Tusié-Luna MT, Gómez-Pérez FJ

Language: Spanish
References: 20
Page: 465-469
PDF size: 251.21 Kb.

ABSTRACT

Thyroid hormone resistance is a syndrome characterized by a reduced response to thyroid hormone with different degrees of resistance at target tissues. We present the clinical features, physical findings, and study protocol in a woman with thyroid hormone resistance. An arginine to tryptophan mutation on the β isoform of the thyroid hormone receptor gene was demonstrated. Thyroid hormone resistance is an uncommon cause of thyroid dysfunction. It is necessary to perform an adequate study and confirmation to avoid an inadequate and ineffective treatment of this condition.

REFERENCES

1. Jameson JL.Thyroid hormone resistance: pathophysiology at the molecular level. J Clin Endocrinol Metab. 1992;74:708-11.

2. Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev. 1993;14:348-99.

3. Sarne DH, Sobieszczyk S, Ain KB, Refetoff S. Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression. J Clin Endocrinol Metab. 1990;70:1305-11.

4. Safer JD, O’Connor MG, Colan SD, Srinivasan S, Tollin SR, Wondisford FE. The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone. J Clin Endocrinol Metab. 1999;84:3099-109.

5. Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest. 1994;94:506-15.

6. Hayashi Y, Sunthornthepvarakul T, Refetoff S. Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone. J Clin Invest. 1994;94:607-15.

7. Mixson AJ, Parrilla R, Ransom SC, et al. Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations. J Clin Endocrinol Metab. 1992; 75:1039-45.

8. Florkowski CM, Brownlie BE, Croxson MS, et al. Thyroid hormone resistance: the role of mutational analysis. Intern Med J. 2006;36:738-41.

9. Sasaki S, Nakamura H, Tagami T, et al. Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3’-triiodothyronine receptor-beta. J Clin Endocrinol Metab. 1993;76:1254-8.

10. Taniyama M, Ban Y, Momotani N, Makino F, Ito K, Ban Y. Three Japanese patients from two families with generalized resistance to thyroid hormone with mutations in exon 9 of the thyroid hormone receptor beta gene. Intern Med. 2001;40:756-8.

11. Platts A, Greenaway T, Parameswaran V. Chronically elevated thyroidstimulating hormone: resistance to thyroid hormone. Intern Med J. 2001; 31:430-1.

12. Mamanasiri S, Yesil S, Dumitrescu AM, et al. Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006;91:3471-7.

13. Brucker-Davis F, Skarulis MC, Grace MB, et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. Ann Intern Med. 1995;123:572-83.

14. Weiss RE, Weinberg M, Refetoff S. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine- guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest. 1993;91:2408-415.

15. 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.

16. Sato M, Otokida K, Kato M. A case of hyperthyroidism caused by the syndrome of inappropriate secretion of thyroid stimulating hormone: association of primary hypergonadotropic hypogonadism. Jpn J Med. 1989;28:223-7.

17. Gershengorn MC, Weintraub BD. Thyrotropin induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of «inappropriate secretion of TSH». J Clin Invest. 1975;56:633-42.

18. Jones I, Srinivas M, Ng L, Forrest D. The thyroid hormone receptor beta gene: structure and functions in the brain and sensory systems. Thyroid. 2003;13:1057-68.

19. Hayashi Y, Weiss RE, Sarne DH, et al. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? J Clin Endocrinol Metab. 1995;80:3246-56.

20. Weiss R, Refetoff S. Treatment of resistance to thyroid hormone-primum non nocere. J Clin Endocrinol Metab. 1999;84:401-4.