open access

Vol 72, No 1 (2021)
Clinical vignette
Published online: 2020-12-28
Submitted: 2020-10-11
Accepted: 2020-11-25
Get Citation

Resistance to thyroid hormone caused by a mutation of the thyroid β receptor gene in a family over three generations

Liping Chen, Lin Ding, Xinlong Chen, Xiaoqian Zhang
DOI: 10.5603/EP.a2020.0089
·
Pubmed: 33619717
·
Endokrynologia Polska 2021;72(1):85-86.

open access

Vol 72, No 1 (2021)
Clinical Vignette
Published online: 2020-12-28
Submitted: 2020-10-11
Accepted: 2020-11-25

Abstract

Not required for Clinical Vignette.

Abstract

Not required for Clinical Vignette.

Get Citation

Keywords

thyroid disease; genetic; mutation

About this article
Title

Resistance to thyroid hormone caused by a mutation of the thyroid β receptor gene in a family over three generations

Journal

Endokrynologia Polska

Issue

Vol 72, No 1 (2021)

Article type

Clinical vignette

Pages

85-86

Published online

2020-12-28

DOI

10.5603/EP.a2020.0089

Pubmed

33619717

Bibliographic record

Endokrynologia Polska 2021;72(1):85-86.

Keywords

thyroid disease
genetic
mutation

Authors

Liping Chen
Lin Ding
Xinlong Chen
Xiaoqian Zhang

References (8)
  1. 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.
  2. 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.
  3. Concolino P, Costella A, Paragliola RM. Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ). Mol Diagn Ther. 2019; 23(3): 353–368.
  4. Persani L, Campi I. Syndromes of Resistance to Thyroid Hormone Action. Exp Suppl. 2019; 111: 55–84.
  5. Ma S, Hu M, Yang H, et al. Periodic Paralysis as a New Phenotype of Resistance to Thyroid Hormone Syndrome in a Chinese Male Adult. J Clin Endocrinol Metab. 2016; 101(2): 349–352.
  6. Kappy MS, Allen DB, Geffner ME. (eds). Pediatric Practice Endocrinology. McGraw-Hill, Toronto 2010: 107–130.
  7. Groeneweg S, Peeters RP, Visser TJ, et al. Therapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromes. Mol Cell Endocrinol. 2017; 458: 82–90.
  8. Tsai SL, Ahmet A. Treatment with methimazole in a 3-year-old male with thyroid hormone resistance. Horm Res Paediatr. 2012; 77(6): 402–406.

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