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Article

Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism

  • Authors:
    • Hong‑Mei Zhang
    • Ya‑Qin Zhou
    • Yan Dong
    • Qing Su
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Xin Hua Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China, Department of Ultrasonography, Ruijin Hospital, North Branch, Xin Hua Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 201801, P.R. China
  • Pages: 290-294
    |
    Published online on: December 6, 2016
       https://doi.org/10.3892/etm.2016.3957
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Abstract

The thyrotropin receptor (TSHR) gene has been defined as a highly mutable gene. Mutations in the TSHR gene result in either gain or loss of the receptor function. Subclinical hypothyroidism (SH) is a clinical condition defined as an elevated serum TSH level associated with normal free thyroxine and free triiodothyronine. Chronic autoimmune thyroiditis is the most frequent cause of subclinical hypothyroidism in adults. In rare cases, a loss-of-function mutation of TSHR is the cause of SH. In the present study, a novel TSHR mutation (V87L; confirmed to be a loss-of-function mutation) was identified in a 59‑year‑old Chinese woman, as the potential cause of the patient's subclinical hypothyroidism. The case may provide valuable insight into the etiology of SH.
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Copy and paste a formatted citation
Spandidos Publications style
Zhang HM, Zhou YQ, Dong Y and Su Q: Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism. Exp Ther Med 13: 290-294, 2017.
APA
Zhang, H., Zhou, Y., Dong, Y., & Su, Q. (2017). Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism. Experimental and Therapeutic Medicine, 13, 290-294. https://doi.org/10.3892/etm.2016.3957
MLA
Zhang, H., Zhou, Y., Dong, Y., Su, Q."Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism". Experimental and Therapeutic Medicine 13.1 (2017): 290-294.
Chicago
Zhang, H., Zhou, Y., Dong, Y., Su, Q."Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism". Experimental and Therapeutic Medicine 13, no. 1 (2017): 290-294. https://doi.org/10.3892/etm.2016.3957
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang HM, Zhou YQ, Dong Y and Su Q: Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism. Exp Ther Med 13: 290-294, 2017.
APA
Zhang, H., Zhou, Y., Dong, Y., & Su, Q. (2017). Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism. Experimental and Therapeutic Medicine, 13, 290-294. https://doi.org/10.3892/etm.2016.3957
MLA
Zhang, H., Zhou, Y., Dong, Y., Su, Q."Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism". Experimental and Therapeutic Medicine 13.1 (2017): 290-294.
Chicago
Zhang, H., Zhou, Y., Dong, Y., Su, Q."Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism". Experimental and Therapeutic Medicine 13, no. 1 (2017): 290-294. https://doi.org/10.3892/etm.2016.3957
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