Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Variable phenotype associated with Ser505Asn-activating thyrotropin-receptor germline mutation.

D Führer1, M Mix, P Wonerow

  • 1III. Medical Department, University of Leipzig, Germany.

Thyroid : Official Journal of the American Thyroid Association
|September 11, 1999
PubMed
Summary

Activating thyrotropin-receptor (TSHR) germline mutations cause hereditary hyperthyroidism. A novel Ser505Asn TSHR mutation presented with milder, later-onset thyrotoxicosis in a pediatric case compared to prior reports.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The IMAP Magnetometer.

Space science reviews·2026
Same author

Lenvatinib as salvage therapy in advanced and progressive GI-NET.

Endocrine-related cancer·2025
Same author

Treatment of Obesity with Thyroid hormones in Europe. Data from the THESIS* Collaboration.

Journal of endocrinological investigation·2024
Same author

Psychological factors influencing consumer intentions to consume cultured meat, fish and dairy.

Appetite·2024
Same author

Enzalutamide and abiraterone in the treatment of patients with metastatic castration-resistant prostate cancer treated previously with chemotherapy.

Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti·2024
Same author

[Diseases of the thyroid gland in men and women-Status quo and new research needs].

Innere Medizin (Heidelberg, Germany)·2023

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Hereditary nonautoimmune hyperthyroidism is often caused by activating germline mutations in the thyrotropin-receptor (TSHR) gene.
  • Thirteen distinct TSHR mutations have been linked to familial and sporadic hyperthyroidism, exhibiting variable clinical severity.

Observation:

  • A 12.3-year-old girl presented with persistent thyrotoxicosis since infancy and diffuse thyroid hyperplasia.
  • The patient required continuous antithyroid medication and had negative autoimmune markers.
  • Genetic analysis revealed a novel TSHR germline mutation (Ser505Asn) in exon 10, absent in her mother.

Findings:

  • The identified Ser505Asn TSHR mutation, previously associated with severe intrauterine hyperthyroidism, manifested with a milder clinical course and later onset in this pediatric patient.

Related Experiment Videos

  • This case highlights phenotypic variability associated with the same TSHR germline mutation.

    • Implications:

    • The findings underscore the importance of genetic testing for TSHR mutations in nonautoimmune hyperthyroidism.
    • Understanding TSHR mutation variability aids in predicting disease course and managing pediatric hyperthyroidism.
    • Further research into genotype-phenotype correlations in TSHR-mediated hyperthyroidism is warranted.