Thyroid hormone resistance syndrom: difficulties in differential diagnosis
Abstract
Thyroid hormone resistance syndrome (RTH) is a rare disorder characterized by reduced peripheral tissue responses to thyroid hormones (TH) and elevated levels of circulating free thyroid hormones. Resistance to thyroid hormone is caused by mutations of the thyroid hormone receptor beta (THRB) gene. In this article, we present case of 26-years-old women who presented with unclear signs and symptoms. Thyroid morphology and function were evaluated with standard ultrasound of the thyroid, scintigraphy and cytological specimen obtained by FNAB. The features of the basic assessment of thyroid status with an emphasis on the concept of “±feedback” of thyroid-stimulating hormone (TSH) and TH. A differential diagnosis of TSH-secreting pituitary adenoma and RTH was discussed. Heterozygous mutation p.P453T in the THRB gene was detected. Thus, the given clinical case demonstrates the necessity of the thorough examination of patients in identifying disorders of the principle of “±feedback”. The observation in dynamics is recommended.
About the Authors
Lyudmila A. RuyatkinaNovosibirsk State Medical University; City Clinical Hospital No.1
Russian Federation
MD, PhD, professor
Aguniya A. Molchanova
City Clinical Hospital No.1
Russian Federation
MD
Alina S. Ruyatkina
Novosibirsk State Medical University; Endocrinology Research Centre
Russian Federation
MD
Lyudmila Y. Rozhinskaya
Endocrinology Research Centre
Russian Federation
MD, PhD, Professor
References
1. Дедов И.И., Мельниченко Г.А., Фадеев В.В. Эндокринология. – М.: ГЭОТАР-Медиа; 2009. [Dedov II, Mel’nichenko GA, Fadeev VV. Endokrinologiya. Moscow: GEOTAR-Media; 2009. (In Russ.)]
2. Biondi B, Bartalena L, Cooper DS, et al. The 2015 European Thyroid Association Guidelines on Diagnosis and Treatment of Endogenous Subclinical Hyperthyroidism. Eur Thyroid J. 2015;4(3):149-163. doi: 10.1159/000438750.
3. Pearce SH, Brabant G, Duntas LH, et al. 2013 ETA Guideline: Management of Subclinical Hypothyroidism. Eur Thyroid J. 2013;2(4):215-228. doi: 10.1159/000356507.
4. Трошина Е.А., Свириденко Н.Ю., Ванушко В.Э., и др. Федеральные клинические рекомендации по диагностике и лечению токсического зоба. // Проблемы эндокринологии. – 2014. – Т. 60. – №6. – C. 67–77. [Troshina EA, Sviridenko NY, Vanushko VE, et al. The federal clinical recommendations on diagnostics and treatment of toxic goiter. Problems of endocrinology. 2014;60(6):67-77. (In Russ.)] doi: 10.14341/probl201460667-77.
5. Трошина Е.А., Абдулхабирова Ф.М. Синдром эутиреоидной патологии (Euthyroid sick syndrome). // Проблемы эндокринологии. – 2001. – Т. 47. – №6. – С. 34–36. [Troshina EA, Abdulkhabirova FM. Sindrom eutireoidnoy patologii (Euthyroid sick syndrome). Problems of endocrinology. 2001;47(6):34-36. (In Russ.)]
6. Пржиялковская Е.Г., Газизова Д.О., Григорьев А.Ю., и др. Тиреотропинома: трудности диффренциальной диагностики (клинический случай). // Клиническая и экспериментальная тиреоидология. – 2011. – Т. 7. – №2. – С. 68–73. [Przhiyalkovskaya EG, Gazizova DO, Grigor’ev AY, et al. Thyrotropin-producing adenoma: diagnostic challenges (сase report). Clinical and experimental thyroidology. 2011;7(2):68-73. (In Russ.)] doi: 10.14341/ket20117268-73.
7. Wan W, Farboud B, Privalsky ML. Pituitary resistance to thyroid hormone syndrome is associated with T3 receptor mutants that selectively impair beta2 isoform function. Mol Endocrinol. 2005;19(6):1529-1542. doi: 10.1210/me.2005-0014.
8. Болезни щитовидной железы. / Под ред. Бравермана Л.И. – М.: Медицина; 2000. [Braverman LI, editor. Bolezni shchitovidnoi zhelezy. Moscow: Meditsina; 2000. (In Russ.)]
9. McDermott MT, Ridgway EC. Thyroid hormone resistance syndromes. Am J Med. 1993;94(4):424-432. doi: 10.1016/0002-9343(93)90155-i.
10. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967;27(2):279-294.doi: 10.1210/jcem-27-2-279.
11. Dumitrescu AM, Refetoff S. Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action. In: De Groot LJ, Chrousos G, Dungan K, et al, editors. Endotext. South Dartmouth: MDText.com, Inc.; 2000.
12. Калдымова В.А., Кияев А.В., Тюльпаков А.Н. Синдром резистентности к тиреоидным гормонам. // Клиническая и экспериментальная тиреоидология. – 2013. – Т. 9. – №1. – С. 51–53. [Kaldymova VA, Kiyaev AV, Tyul’pakov AN. Syndromes of resistance to thyroid hormone.Clinical and experimental thyroidology. 2013;9(1):51-53. (In Russ.)] doi: 10.14341/ket20139151-53.
13. Ho CW, Chan RM, Lim YY, et al. Thyroid hormone resistance due to a novel THRss mutation. Ann Acad Med Singapore. 2014;43(4):241-243.
14. Кроненберг Г.М., Мелмед Ш., Полонски К.С., Ларсен П.Р. Эндокринология по Вильямсу. Заболевания щитовидной железы. / Под ред. Дедова И.И., Мельниченко Г.А. – М.: Рид Элсивер; 2010. [Kronenberg GM, Melmed S, Polonski KS, Larsen PR, Dedov II, Mel’nichenkoGA, editors. Williams Textbook of Endocrinology. Moscow: Reed Elsevier; 2010. (In Russ.)]
15. Usala SJ, Bale AE, Gesundheit N, et al. Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene. Mol Endocrinol. 1988;2(12):1217-1220. doi: 10.1210/mend-2-12-1217.
16. Kammoun I, Bouzid C, Kandara H, et al. A case of resistance to thyroid hormone with chronic thyroiditis: discovery of a novel mutation (I54V). Case Rep Endocrinol. 2011;2011:584930. doi: 10.1155/2011/584930.
17. 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(2):277-305. doi: 10.1016/j.beem.2007.03.005.
18. Weiss RE. Treatment of resistance to thyroid hormone – primum non nocere. J Clin Endocrinol Metab. 1999;84(2):401-404. doi: 10.1210/jc.84.2.401.
19. Beck-Peccoz P, Persani L. TSH-induced hyperthyroidism caused by a pituitary tumor. Nat Clin Pract Endocrinol Metab. 2006;2(9):524-528; quiz following p528. doi: 10.1038/ncpendmet0276.
20. van den Beld AW, Visser TJ, Feelders RA, et al. Thyroid hormone concentrations, disease, physical function, and mortality in elderly men. J Clin Endocrinol Metab. 2005;90(12):6403-6409. doi: 10.1210/jc.2005-0872.
21. Gereben B, Zavacki AM, Ribich S, et al. Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling. Endocr Rev. 2008;29(7):898-938. doi: 10.1210/er.2008-0019.
22. Stohn JP, Martinez ME, Matoin K, et al. MCT8 deficiency in male mice mitigates the phenotypic abnormalities associated with the absence of a functional type 3 deiodinase. Endocrinology. 2016;157(8):3266-3277. doi: 10.1210/en.2016-1162.
23. Gereben B, Zavacki AM, Ribich S, et al. Cellular and molecular basis of deiodinase-regulated thyroid hormone signaling. Endocr Rev. 2008;29(7):898-938. doi: 10.1210/er.2008-0019.
24. Srichomkwun P, Anselmo J, Liao XH, et al. Fetal exposure to high maternal thyroid hormone levels causes central resistance to thyroid hormone in adult humans and mice. J Clin Endocrinol Metab. 2017;102(9):3234-3240. doi: 10.1210/jc.2017-00019.
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For citations:
Ruyatkina L.A., Molchanova A.A., Ruyatkina A.S., Rozhinskaya L.Y. Thyroid hormone resistance syndrom: difficulties in differential diagnosis. Clinical and experimental thyroidology. 2018;14(1):39-46. (In Russ.)
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