Thyroid hormone resistance: A review of the literature
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resistance to thyroid hormone
thyroid hormone receptors
thyroid stimulating hormone

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Flórez Romero, A. ., Hurtado Amézquita, Y. C., León Muñoz, L. M., & Révérend Lizcano, C. A. . (2023). Thyroid hormone resistance: A review of the literature. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 10(1).


Background: Thyroid hormone resistance represents a group of syndromes characterized by decreased sensitivity to this hormone. Three factors that promote resistance have been described: mutations in genes that code for the T3 nuclear receptor (TRA and TRB), alterations in the cellular transport of T4 and T3, and defects in the conversion of T4 to T3 mediated by deiodinases.

Purpose: To describe the different forms of thyroid hormone resistance, from clinical, pathophysiological, genetic and molecular points of view.

Methodology: The PubMed and MedLine databases were consulted in order to obtain cross-references that linked the keywords in a relevant way with clinical, pathophysiological, genetic and molecular aspects. Resources from the NCBI website were also used, especially with regard to some genetic aspects.

Results: The references found through the search carried out allowed an integrated exposition of the clinical and pathophysiological aspects associated with the genetic and molecular aspects of thyroid hormone resistance.

Conclusions: The importance of knowing the causes and syndromic manifestations of thyroid hormone resistance is recognized, which allows personalized interventions based on the clinic.
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Bernal J. Síndromes de resistencia a las hormonas tiroideas. Endocrinol Nutr. 2011;58:185-96.

Bianco AC, Kim BW. Deiodinases: Implications of the local control of thyroid hormone action. J Clin Invest. 2006:2571-9.

Van Gucht AL, Moran C, Meima ME, Visser WE, Chatterjee K, Visser TJ, et al. Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha. En: Current Topics in Developmental Biology. Academic Press Inc; 2017.

Groeneweg S, Peeters RP, Visser TJ, Visser WE. Therapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromes. Mol Cell Endocrinol. 2017;458:82-90.

Durán P, Mejía L, Lozano MC, Salguero F, Laverde G, Lattig MC. Resistencia a la Hormona Tiroidea en dos familias colombianas. Identificación y caracterización de mutaciones en el receptor beta de la Hormona Tiroidea. Rev Medicina. 2013;35(1):7-16.

Sun H, Cao L, Zheng R, Xie S, Liu C. Update on resistance to thyroid hormone syndrome?. Ital J Pediatr. 2020;46:168.

Mooradian AD. Age-Related Resistance to Thyroid Hormone Action, Drugs and Aging. Springer International Publishing; 2019.

Vela A, Pérez-Nanclares G, Ríos I, Rica I, Portillo N, Castaño L. Thyroid hormone resistance from newborns to adults: a Spanish experience. J Endocrinol Invest. 2019;42(8):941-9.

Persani L, Campi I. Syndromes of Resistance to Thyroid Hormone Action. En: Genetics of Endocrine Diseases and Syndromes. Springer; 2019.

Moran C, Chatterjee K. Resistance to thyroid hormone ?-emerging definition of a disorder of thyroid hormone action. J Clin Endocrinol Metab. 2016;101(7):2636-9.

Singh BK, Yen PM. A clinician’s guide to understanding resistance to thyroid hormone due to receptor mutations in the TR? and TR? isoforms. Clin Diabetes Endocrinol. 2017;15(3):8.

National Library of Medicine (NIH). ClinVar [Internet].

Censi S, Barollo S, Watutantrige-Fernando S, Manso J, Ferrara AM, Mian C. A Novel Thyroid Hormone Receptor Beta Mutation (G357R) in a Family with Resistance to Thyroid Hormone Beta: Extending the Borders of the “hot” Region in the THRB Gene. Thyroid. 2019;29(3):449-51.

Han R, Ye L, Jiang X, Zhou X, Billon C, Guan W, et al. Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience. Endocrine. 2015;50(3):689-97.

Illouz F, Briet C, Mirebeau-Prunier D, Bouhours-Nouet N, Coutant R, Sibilia P, et al. Cardiac complications of thyroid hormone resistance syndromes. Ann Endocrinol. 2021;82(3-4):167-9.

Tjörnstrand A, Nyström HF. Diagnostic approach to TSH-producing pituitary adenoma. Eur J Endocrinol. 2017;177(4):R183-97.

Han R, Shen L, Zhang J, Xie J, Fang W, Sun Q, et al. Diagnosing Thyrotropin-Secreting Pituitary Adenomas by Short-Term Somatostatin Analogue Test. Thyroid. 2020;30(9):1236-44.

Moran C, Agostini M, McGowan A, Schoenmakers E, Fairall L, Lyons G, et al. Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor ?1 Mutant Proteins. Thyroid. 2017;27(7):973-82.

Le Maire A, Bouhours-Nouet N, Soamalala J, Mirebeau-Prunier D, Paloni M, Guee L, et al. Two novel cases of resistance to thyroid hormone due to THRA mutation. Thyroid. 2020;30(8):1217-21.

Luongo C, Dentice M, Salvatore D. Deiodinases and their intricate role in thyroid hormone homeostasis, Nature Rev Endocrinol. 2019;15:479-88.

Groeneweg S, Visser WE, Visser TJ. Disorder of thyroid hormone transport into the tissues. Best Pract Res Clin Endocrinol Metab. 2017;31(2):241-53.

Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, et al. Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene. Am J Hum Genet. 2005;77(1):41-53.

Moran C, Agostini M, Visser WE, Schoenmakers E, Schoenmakers N, Offiah AC, et al. Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)?1 and TR?2: Clinical, biochemical, and genetic analyses of three related patients. Lancet Diabetes Endocrinol. 2014;2(8):619-26.

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