Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation
The p.R438Lfs445X mutation leads to a severe phenotype of RTHβ. Mosaicism might underlie a subset of patients with the clinical phenotype of RTHβ. Combined methimazole/Triac therapy had beneficial effects on several thyrotoxic features.
Authors
- Marcel E. Meima (ORCID: https://orcid.org/0000-0002-5392-0519)
- Ferdy S. van Geest (ORCID: https://orcid.org/0000-0002-6960-5775)
- W. Edward Visser (ORCID: https://orcid.org/0000-0002-5248-863X)
- Krishna Chatterjee (ORCID: https://orcid.org/0000-0002-2654-8854)
- Frederik A. Verburg (ORCID: https://orcid.org/0000-0002-7161-0979)
- Sjoerd A.A. van den Berg (ORCID: https://orcid.org/0000-0001-5937-7505)
- Nitash Zwaveling‐Soonawala (ORCID: https://orcid.org/0000-0003-0318-5541)
- Wenjun Liao (ORCID: https://orcid.org/0000-0001-9186-8312)
- Erica L. T. van den Akker
- Willemijn G. Leen
- Paul G. Voorhoeve
Institutions
- University of Cambridge (GB)
- Erasmus MC (NL)
- Emma Kinderziekenhuis (NL)
- Canisius-Wilhelmina Ziekenhuis (NL)
- Wellcome/MRC Institute of Metabolic Science (GB)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Amsterdam University Medical Centers (NL)
- Wellcome Trust (GB)
- University of Amsterdam (NL)
- Medical Research Council (GB)
Publication Details
- Journal
- European Thyroid Journal
- Published
- 2025-10-29
- DOI
- https://doi.org/10.1530/etj-25-0092
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00