The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone
Joint Authors
Okamoto, Yasuyuki
Kimura, Tetsuya
Hayashi, Yoshitaka
Tsukamoto, Yuka
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-12-31
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
A 31-year-old Japanese male patient with a history of atrial fibrillation showed elevated serum levels of free thyroxine and triiodothyronine and a normal level of thyrotropin.
The same abnormal hormone pattern was also found in his son.
These data indicated that the index patient and the son have thyroid hormone resistance syndrome.
Exon sequencing using DNA from these two patients revealed that both patients harbored a heterozygous mutation in the THRB gene: G1244C in exon 9, which results in R320P substitution.
Therefore, thyroid hormone resistance syndrome caused by THRB mutation (RTHβ) was diagnosed.
The mutation of the 320 t h arginine to proline has not been found to date.
In conclusion, herein, we have described the first case of RTHβ that is associated with R320P mutation.
American Psychological Association (APA)
Kimura, Tetsuya& Hayashi, Yoshitaka& Tsukamoto, Yuka& Okamoto, Yasuyuki. 2018. The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone. Case Reports in Endocrinology،Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1142953
Modern Language Association (MLA)
Kimura, Tetsuya…[et al.]. The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone. Case Reports in Endocrinology No. 2018 (2018), pp.1-3.
https://search.emarefa.net/detail/BIM-1142953
American Medical Association (AMA)
Kimura, Tetsuya& Hayashi, Yoshitaka& Tsukamoto, Yuka& Okamoto, Yasuyuki. The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone. Case Reports in Endocrinology. 2018. Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1142953
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1142953