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Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake

Kashyap A Patel1,2, Bridget Knight1,3, Aftab Aziz4

  • 1The Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

Clinical Endocrinology
|October 30, 2018
PubMed
Abstract

Insights

Genetic screening for TSHR mutations is not recommended for adult hyperthyroidism patients without autoimmune signs. This study found no pathogenic TSHR mutations in such cases, differentiating them from Graves' disease.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Hyperthyroidism can stem from Graves' disease or TSHR mutations, presenting similar symptoms.
  • Distinguishing between these causes is crucial due to treatment implications.
  • TSHR mutations are a rare cause of nonautoimmune hyperthyroidism.

Purpose of the Study:

  • To evaluate the utility of systematic TSHR mutation screening in adults with hyperthyroidism.
  • To differentiate between Graves' disease and germline activating TSHR mutations in patients lacking autoimmune features.
  • To assess the clinical relevance of identified TSHR variants.

Main Methods:

  • A cross-sectional study involving 78 adult Caucasian hyperthyroidism patients.
  • Patients exhibited diffuse thyroid scintigraphy uptake but lacked TRAb and autoimmune signs.
  • Genomic DNA analysis was performed to identify TSHR gene variants.

Main Results:

  • Four TSHR variants (p.(Glu34Lys), p.(Asp36His), p.(Pro52Thr), p.(Ile334Thr)) were identified in 11 patients.
  • None of the identified variants were classified as pathogenic.
  • This suggests activating TSHR mutations are rare in this patient cohort.

Conclusions:

  • Activating TSHR mutations are an infrequent cause of nonautoimmune hyperthyroidism in adults.
  • Routine genetic testing for TSHR mutations is not supported for hyperthyroid patients with diffuse uptake, negative TRAb, and no extrathyroidal manifestations.
  • Clinical presentation alone is insufficient to distinguish TSHR mutations from Graves' disease without genetic testing.
Keywords:
Graves’ diseaseTRAbTSHRhyperthyroidismthyroid scintigraphy

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