open access

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

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

Liping Chen1, Lin Ding2, Xinlong Chen3, Xiaoqian Zhang2
·
Pubmed: 33619717
·
Endokrynol Pol 2021;72(1):85-86.
Affiliations
  1. Department of Endocrinology, Weifang Medical University, Weifang, China
  2. Department of Endocrinology, The First Affiliated Hospital of Shandong First Medical University, Shandong Provincial Qianfoshan Hospital, Jinan, China
  3. Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, China

open access

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

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

Page views

1060

Article views/downloads

685

DOI

10.5603/EP.a2020.0089

Pubmed

33619717

Bibliographic record

Endokrynol Pol 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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