Journal of Interdisciplinary Genomics

유전의학융합회 (Interdisciplinary Society of Genetic & Genomic Medicine)
권호 표지
DOI QR코드

DOI QR Code

Resistance to Thyroid Hormone Syndrome Mutation in THRB and THRA: A Review

  • Jung Eun Moon (Division of Pediatric Endocrinology, Kyungpook National University Children's Hospital)
  • 투고 : 2023.10.18
  • 심사 : 2023.10.30
  • 발행 : 2023.10.31
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Resistance to thyroid hormone syndrome (RTH) is a genetic disease caused by the mutation of either the thyroid hormone receptor-β (THRB) gene or the thyroid hormone receptor-α (THRA) gene. RTH caused by THRB mutations (RTH-β) is characterized by the target tissue's response to thyroid hormone, high levels of triiodothyronine and/or thyroxine, and inappropriate secretion of thyroid-stimulating hormone (TSH). THRA mutation is characterized by hypothyroidism that affects gastrointestinal, neurological, skeletal, and myocardial functions. Most patients do not require treatment, and some patients may benefit from medication therapy. These syndromes are characterized by decreased tissue sensitivity to thyroid hormones, generating various clinical manifestations. Thus, clinical changes of resistance to thyroid hormones must be recognized and differentiated, and an approach to the practice of personalized medicine through an interdisciplinary approach is needed.

키워드

과제정보

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

참고문헌

  1. Bernal J. Sindromes de resistencia a las hormonas tiroideas. Endocrinol Nutr 2011;58:185-96. doi: 10.1016/j.endonu.2011.02.001.
  2. Bianco AC, Kim BW. Deiodinases: implications of the local control of thyroid hormone action. J Clin Invest 2006;116:2571-9. doi: 10.1172/JCI29812.
  3. 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. Curr Top Dev Biol 2017;125:337-55. doi: 10.1016/bs.ctdb.2017.02.001.
  4. 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. doi: 10.1016/j.mce.2017.02.029.
  5. Vela A, Perez-Nanclares G, Rios I, Rica I, Portillo N, Castano L. Thyroid hormone resistance from newborns to adults: a Spanish experience. J Endocrinol Invest 2019;42:941-9. doi: 10.1007/s40618-019-1007-4.
  6. Singh BK, Yen PM. A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRα and TRβ isoforms. Clin Diabetes Endocrinol 2017;15:8. doi: 10.1186/s40842-017-0046-z.
  7. 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;29:449-51. doi: 10.1089/thy.2018.0201.
  8. 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: 689-97. doi: 10.1007/s12020-015-0622-x.
  9. Persani L, Campi I. Syndromes of resistance to thyroid hormone action. En: genetics of endocrine diseases and syndromes. Genetics of Endocrine Diseases and Syndromes 2019;55-84. doi: 10.1007/978-3-030-25905-1_5.
  10. 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;82:167-9. doi: 10.1016/j.ando.2020.03.008.
  11. Sun H, Cao L, Zheng R, Xie S, Liu C. Update on resistance to thyroid hormone syndromeβ. Ital J Pediatr 2020;46:168. doi: 10.1186/s13052-020-00929-x.
  12. National Library of Medicine (NIH). ClinVar [Internet]. https://www.ncbi.nlm.nih.gov/clinvar/
  13. 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 α1 mutant proteins. Thyroid 2017;27:973-82. doi: 10.1089/thy.2017.0157.
  14. Moran C, Chatterjee K. Resistance to thyroid hormone α-emerging definition of a disorder of thyroid hormone action. J Clin Endocrinol Metab 2016;101:2636-9. doi: 10.1210/jc.2016-2317.