title: Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism.
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.
authors.affiliation: Department of Endocrinology, Xin Hua Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Hong-Mei
authors.initials: HM
authors.lastname: Zhang
authors.affiliation: Department of Ultrasonography, Ruijin Hospital, North Branch, Xin Hua Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 201801, P.R. China.
authors.forename: Ya-Qin
authors.initials: YQ
authors.lastname: Zhou
authors.affiliation: Department of Endocrinology, Xin Hua Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Dong
authors.affiliation: Department of Endocrinology, Xin Hua Hospital affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Su
keywords: loss of function; mutation; subclinical hypothyroidism; thyrotropin receptor