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Updated: Dec 27, 2025

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The Thyrotropin Receptor Mutation Database Update.

Alexandra Stephenson1,2, Lorraine Lau3, Markus Eszlinger1,2,4,5

  • 1Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada.

Thyroid : Official Journal of the American Thyroid Association
|March 1, 2020
PubMed
Summary

The thyrotropin receptor (TSHR) mutation database has been updated, now including 638 TSHR mutations. This resource aids in diagnosing hyperthyroidism, hypothyroidism, and TSH insensitivity.

Keywords:
FNAHSNAHTSH insensitivityTSHRcongenital hypothyroidismhot thyroid nodule

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • The thyrotropin receptor (TSHR) is crucial for thyroid hormone regulation.
  • Mutations in TSHR can lead to various thyroid dysfunctions, including hyperthyroidism and hypothyroidism.
  • A comprehensive database of TSHR mutations is essential for clinical diagnosis and research.

Purpose of the Study:

  • To update and expand the TSHR mutation database with the latest findings.
  • To provide a centralized resource for all known TSHR mutations and their clinical correlations.
  • To facilitate the rapid validation of TSHR mutations in patients with thyroid disorders.

Main Methods:

  • Compilation and curation of published TSHR mutation data.
  • Inclusion of novel mutations and new cases of previously described mutations.
  • Website-based accessibility for the updated database (tsh-receptor-mutation-database.org).

Main Results:

  • The updated database now contains 638 cases of TSHR mutations.
  • Includes 448 gain-of-function mutations (7 novel, 41 new cases).
  • Includes 190 loss-of-function mutations (28 novel, 31 new cases).

Conclusions:

  • The continuously updated TSHR mutation database is a valuable tool for clinicians and researchers.
  • Enables efficient diagnosis of TSHR-related hyperthyroidism, hypothyroidism, and TSH insensitivity.
  • Highlights the ongoing discovery of TSHR mutations and their clinical significance.