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Resistance to thyroid hormone caused by a mutation of the thyroid β receptor gene in a family over three generations
Affiliations- Department of Endocrinology, Weifang Medical University, Weifang, China
- Department of Endocrinology, The First Affiliated Hospital of Shandong First Medical University, Shandong Provincial Qianfoshan Hospital, Jinan, China
- Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, China
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Abstract
Not required for Clinical Vignette.
Abstract
Not required for Clinical Vignette.
Keywords
thyroid disease; genetic; mutation
About this articleTitle
Resistance to thyroid hormone caused by a mutation of the thyroid β receptor gene in a family over three generations
Journal
Issue
Article type
Clinical vignette
Pages
85-86
Published online
2020-12-28
Page views
1071
Article views/downloads
694
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2021;72(1):85-86.
Keywords
thyroid disease
genetic
mutation
Authors
Liping Chen
Lin Ding
Xinlong Chen
Xiaoqian Zhang
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- 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.
- Concolino P, Costella A, Paragliola RM. Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ). Mol Diagn Ther. 2019; 23(3): 353–368.
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- Kappy MS, Allen DB, Geffner ME. (eds). Pediatric Practice Endocrinology. McGraw-Hill, Toronto 2010: 107–130.
- 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.
- 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.
