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

Zhang,Hong‑Mei; Zhou,Ya‑Qin; Dong,Yan; Su,Qing

doi:10.3892/etm.2016.3957

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
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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
Published online on: December 6, 2016 https://doi.org/10.3892/etm.2016.3957
Pages: 290-294

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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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