Thyroid disease: a clinical and genetic approach

Enfermedad tiroidea: una aproximación clínica y genética

Published 2016-12-31


https://doi.org/10.30554/archmed.16.2.1107.2016
Open | Download
PDF (Spanish) FLIP HTML (Spanish)
Issue
Vol. 16 No. 2
Section
Review Articles
How to Cite
Ramírez Pulgarín, S., Martínez Sánchez, L. M., & Jaramillo Jaramillo, L. I. (2016). Thyroid disease: a clinical and genetic approach. Archivos De Medicina (Manizales), 16(2), 359-372. https://doi.org/10.30554/archmed.16.2.1107.2016
Download Citation
Endnote/Zotero/Mendeley (RIS) BibTeX
DOI

https://doi.org/10.30554/archmed.16.2.1107.2016
Dimensions
PlumX

How to Cite

Ramírez Pulgarín, S., Martínez Sánchez, L. M., & Jaramillo Jaramillo, L. I. (2016). Thyroid disease: a clinical and genetic approach. Archivos De Medicina (Manizales), 16(2), 359-372. https://doi.org/10.30554/archmed.16.2.1107.2016

Download Citation

license
Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Sergio Ramírez Pulgarín
Perfil Google Scholar
Lina Maria Martínez Sánchez
Perfil Google Scholar
Laura Isabel Jaramillo Jaramillo
Perfil Google Scholar
Show authors biography

Most read articles by the same author(s)

<< < 2 

The thyroid gland is one of the endocrine organs responsible for regulating different metabolic processes, synthesizes thyroid hormones, thyroxine and triiodothyronine, necessary for the functioning of the body. Hypothyroidism, a condition in which the thyroid gland cannot produce enough thyroid hormone to meet the requirement for tissue, is the most common thyroid disorder and one of the major endocrine alterations. The most common causes are iodine deficiency and autoimmune chronic lymphocytic thyroiditis. The clinical picture of hypothyroidism is quite broad, affecting different organs and systems. The management of this pathology is made with hormone replacement, levothyroxine is the indication for this. Hyperthyroidism on the other hand, refers to the sustained increase in thyroid hormones due to the increase of biosynthesis and secretion of the thyroid. The main causes include disease Graves Basedow (EG). Its clinical presentation is wide and varies from asymptomatic to a thyroid storm, which compromises the life of the patient. The treatment is based on anti-thyroid medications but other alternatives such as radioactive iodine and thyroidectomy have also designed. Diseases that directly affect the thyroid, such as cancer, are also of importance.

Also diseases that directly affect the thyroid, including cancer, are of great importance; evidence from numerous studies suggests that genetic polymorphisms influence the risk of carcinogenesis and the genetic susceptibility is an important factor in cancer development. Genetic advances in this disease have allowed more thorough understanding of the differences in the behavior of thyroid disorders between one person and another, also have created a new starting point for drug treatment.

Article visits | PDF visits

Downloads

Download data is not yet available.
  1. Jameson J, Weetman AP. Chapter 341. Disorders of the Thyroid Gland. In:Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson J, Loscalzo J. eds.Harrison's Principles of Internal Medicine, 18e. New York, NY: McGraw-Hill; 2012.
  2. Iwen KA, Schröder E, Brabant G. Thyroid hormones and the metabolic syndrome. Eur Thyroid J. 2013;2(2):83-92.
  3. Huang CJ, Jap TS. A systematic review of genetic studies of thyroid disorders in Taiwan. J Chin Med Assoc. 2015;78(3):145-53.
  4. Marrakchi S, Kanoun F, Idriss S, Kammoun I, Kachboura S. Arrhythmia and thyroid dysfunction. Herz. 2015;40 Suppl 2:101-9.
  5. Cardoso LF, Maciel LM, Paula FJ. The multiple effects of thyroid disorders on bone and mineral metabolism. Arq Bras Endocrinol Metabol. 2014;58(5):452-63.
  6. Dayan CM, Panicker V. Hypothyroidism and depression. Eur Thyroid J. 2013;2(3):168-79.
  7. American College of Physicians. In the clinic Hypothyroidism. Estados Unidos de América. Annals of Internal Medicine. 2009.
  8. Dubbs SB, Spangler R. Hypothyroidism: causes, killers, and life-saving treatments. Emerg Med Clin North Am. 2014;32(2):303-17.
  9. Vaidya B, Pearce SH. Management of hypothyroidism in adults. BMJ. 2008;337:a801.
  10. Devdhar M, Ousman YH, Burman KD. Hypothyroidism. Endocrinol Metab Clin North Am. 2007;36(3):595-615, v. Review. PubMed PMID: 17673121.
  11. Garber JR, Cobin RH, Gharib H, Hennessey JV, Klein I, Mechanick JI, Pessah-Pollack R, Singer PA, Woeber KA; American Association Of Clinical Endocrinologists And American Thyroid Association Taskforce On Hypothyroidism In Adults. Clinical practice guidelines for hypothyroidism in adults: cosponsored by the American Association of Clinical Endocrinologists and the American Thyroid Association. Thyroid. 2012;22(12):1200-35.
  12. Léger J. Congenital hypothyroidism: a clinical update of long-term outcome in young adults. Eur J Endocrinol. 2015;172(2):R67-77.
  13. Chaker L, Baumgartner C, Ikram MA, Dehghan A, Medici M, Visser WE, Hofman A, Rodondi N, Peeters RP, Franco OH. Subclinical thyroid dysfunction and the risk of stroke: a systematic review and meta-analysis. Eur J Epidemiol. 2014;29(11):791-800.
  14. Godoy C, Acevedo M, Barrera A, Yismeyian A, Ugarte F. Hipertiroidismo en niños y adolescentes. Rev Chil Pediatr 2009; 80 (1): 21-29.
  15. Seigel S, Hodak S. Thyrotoxicosis. Med Clin N Am 2012; (96): 175–201.
  16. Jameson JL, Mandel SJ, Weetman AP. Disorders of the thyroid gland. En: Kasper D, Fauci A, Hauser S, Longo D, Jameson JL, Loscalzo J. Harrison’s principles of internal medicine. 19a ed. Estados Unidos de América: McGraw-Hill; 2015. p. 2283-308.
  17. Devereaux D, Tewelde SZ. Hyperthyroidism and thyrotoxicosis. Emerg Med Clin North Am. 2014;32(2):277-92.
  18. Menconi F, Marcocci C, Marinò M. Diagnosis and classification of Grave’s disease. Autoinmun Rev. 2014; (13): 398-402.
  19. Yanes M, Leal L, Iglesias I, Rodriguez L, Maciques JE. Frecuencia y características clínicas de la orbitopatía asociada al tiroides en pacientes hipertiroideos de reciente diagnóstico. Rev Cubana Endocrinol. 2013;24(2):258-269.
  20. Yang D, Gonzalez MO, Durairaj VD. Medical management of thyroid eye disease. Saudi J Ophthalmol. 2011; (25): 3–13.
  21. Vargas-Uricoechea H, Maya DE. Eficacia del tratamiento con esteroides para la oftalmopatía tiroidea. Rev Venez Endocrinol Metab 2014;12(3): 157-166.
  22. Infante A, Turcios SE. Hipertiroidismo. Rev Cubana Endocrinol. 2012;23(3):213-20.
  23. Cooper DS, Ladenson PW. The thyroid gland. En: Gardner DG, Shoback D. Greenspan’s Basic & Clinical Endocrinology. 9 ed. Estados Unidos de América: McGraw-Hill; 2011. p.163-226.
  24. Liberman C. Enfermedad tiroidea subclínica: revisión y enfoque clínico. Rev Med Clin Condes. 2013; 24(5): 748-53.
  25. Wiersinga WM. Should we treat mild subclinical/mild hyperthyroidism? Yes. Eur J Intern Med 2011; (22): 324–9.
  26. Velasquez MP, Bernal J. Presentación atípica de un hipertiroidismo inducido. Rev Colomb Psiquiat. 2013; 42(1): 144-50.
  27. Rajaii F, Gupta S, Douglas RS. Endocrinologic management of hyperthyroidism and the impact on thyroid eye disease. Taiwan J Ophtalmol. 2014; (4): 69-72.
  28. García WA, Pérez G, Akdia A, Pastora S, Galofrec P, Biarnésd F. Association studies of OGG1, XRCC1, XRCC2 and XRCC3 polymorphisms with differentiated thyroid cancer. Mutat Res Fund Mol Mech Mut. 2011; 709: 67-72.
  29. Yazdania N, Sayahpourb FA, Haghpanahb V, Amirib P, Shahrabi-Farahanib M, Moradia M, et al. Survivin gene polymorphism association with papillary thyroid carcinoma. Pathol Res Pract. 2012; (208): 100-3.
  30. Xiao M, Hu S, Tang J, Zhang L, Jiang H. Interleukin (IL)-21 promoter polymorphism ncreases the risk of thyroid cancer in Chinese population. Gene. 2014; 537: 15-9.
  31. Wang YX, Li ML, Yu SG, Liu CM, Han Y, Wang XY. The association between the Survivin A9194G exon polymorphisms and papillary thyroid carcinoma risk in the Han Chinese population. Pathol Res Pract. 2013; (209): 151-4.
  32. Gyu Y, Kang S, Chung JH, Hwan K. Association study of integrins beta 1 and beta 2 gene polymorphism and papillary thyroid cancer. Am J Surg Pathol. 2013; (205): 631-5
  33. Hu Z, Hu X, Long J, Su L, Wei B. XRCC1 polymorphisms and differentiated thyroid arcinoma risk: A meta-analysis. Gene. 2013; (528): 67-73.
  34. Chan Y, Chung JH, Kang S, Youl S, Chon S, Joon S, et al. Association between interleukin 17/interleukin 17 receptor gene polymorphisms and papillary thyroid cancer in Korean population. Cytokine. 2015; (71): 283-8.
  35. Smith RA, Salajegheh A, Weinstein S, Nassiri M, Lam AK. Correlation between BRAF mutation and the clinicopathological parameters in papillary thyroid carcinoma with particular reference to follicular variant. Hum Pathol. 2011;42(4):500-6.
  36. Pelizzo MR, Dobrinja C, Casal Ide E, Zane M, Lora O, Toniato A, Mian C, Barollo S, Izuzquiza M, Guerrini J, De Manzini N, Merante Boschin I, Rubello D. The role of BRAF(V600E) mutation as poor prognostic factor for the outcome of patients with intrathyroid papillary thyroid carcinoma. Biomed Pharmacother. 2014;68(4):413-7.
  37. Tang KT, Lee CH. BRAF mutation in papillary thyroid carcinoma: pathogenic role and clinical implications. J Chin Med Assoc. 2010;73(3):113-28.
  38. Jung YY, Yoo JH, Park ES, Kim MK, Lee TJ, Cho BY, Chung YJ, Kang KH, Ahn HY, Kim HS. Clinicopathologic correlations of the BRAFV600E mutation, BRAF V600E immunohistochemistry, and BRAF RNA in situ hybridization in papillary thyroid carcinoma. Pathol Res Pract. 2015;211(2):162-70.
  39. Zagzag J, Pollack A, Dultz L, Dhar S, Ogilvie JB, Heller KS, Deng FM, Patel KN. Clinical utility of immunohistochemistry for the detection of the BRAF v600e mutation in papillary thyroid carcinoma. Surgery. 2013;154(6):1199-204;
  40. discussion 1204-5.
  41. Kwon HJ, Kim EK, Kwak JY. Cytomorphologic features in thyroid nodules read as "suspicious for malignancy" on cytology may predict thyroid cancers with the BRAF mutation. Pathol Res Pract. 2015;211(9):671-6.
  42. Kleiman DA, Buitrago D, Crowley MJ, Beninato T, Veach AJ, Zanzonico PB, Jin M, Fahey TJ 3rd, Zarnegar R. Thyroid stimulating hormone increases iodine uptake by thyroid cancer cells during BRAF silencing. J Surg Res. 2013;182(1):85-93.
  43. Zitzelsberger H, Bauer V, Thomas G, Unger K. Molecular rearrangements in papillary thyroid carcinomas. Clin Chim Acta. 2010;411(5-6):301-8.
  44. Figlioli G, Landi S, Romei C, Elisei R, Gemignani F. Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form. Mutat Res. 2013;752(1):36-44.
  45. El-Abdallah AA, Junaid TA. Overexpression of wild-type c-RET and zero prevalence of RET/PTC rearrangements are associated with papillary thyroid cancer (PTC) in Kuwait. Exp Mol Pathol. 2011;90(1):61-5.
  46. Frank-Raue K, Rondot S, Raue F. Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC. Mol Cell Endocrinol. 2010;322(1-2):2-7.
  47. Chang YS, Lin IL, Yeh KT, Chang JG. Rapid detection of K-, N-, H-RAS, and BRAF hotspot mutations in thyroid cancer using the multiplex primer extension. Clin Biochem. 2013;46(15):1572-7.
  48. Maertens O, Cichowski K. An expanding role for RAS GTPase activating proteins (RAS GAPs) in cancer. Adv Biol Regul. 2014;55:1-14.
  49. Guerra A, Carrano M, Angrisani E, Puzziello A, Izzo G, Di Crescenzo V, Vatrella A, Vitale M. Detection of RAS mutation by pyrosequencing in thyroid cytology samples. Int J Surg. 2014;12 Suppl 1:S91-4.
  50. Moses W, Weng J, Khanafshar E, Duh QY, Clark OH, Kebebew E. Multiple genetic alterations in papillary thyroid cancer are associated with younger age at presentation. J Surg Res. 2010;160(2):179-83.
  51. Milosevic Z, Pesic M, Stankovic T, Dinic J, Milovanovic Z, Stojsic J, Dzodic R, Tanic N, Bankovic J. Targeting RAS-MAPK-ERK and PI3K-AKT-mTOR signal transduction pathways to chemosensitize anaplastic thyroid carcinoma. Transl Res. 2014;164(5):411-23.

Information

Google Scholar Profile

Author Guidelines