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Peer-reviewedCC BY 4.0Frontiers in Endocrinology

Clinical manifestations of resistance to thyroid hormone beta (RTHβ) syndrome in children – multicenter case series

  • Anna Fedorczak1
  • Martyna Sokół2
  • Iwona Beń-Skowronek2
  • Magdalena Mierzwa3
  • Agnieszka Zachurzok3
  • Agnieszka Bogusz-Wójcik4
  • Julia Przybylak-Ortega4
  • Elżbieta Moszczyńska4
  • Paulina Berezowiec5
  • Artur Bossowski5
  • Natalia Dąbek6
  • Artur Mazur6
7 more authors
  • Kamil Dyrka7,8
  • Marek Niedziela8
  • Magdalena Makowiecka-Wołek9
  • Robert Śmigiel10
  • Agnieszka Ulenberg10
  • Małgorzata Myśliwiec10
  • Renata Stawerska1,11
11 affiliations
  1. 1Department of Endocrinology and Metabolic Diseases, Polish Mother’s Memorial Hospital—Research Institute
  2. 2Department of Pediatric Endocrinology and Diabetology with the Endocrinology and Metabolic Laboratory, Medical University of Lublin
  3. 3Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia
  4. 4Department of Endocrinology and Diabetology, Children’s Memorial Health Institute
  5. 5Department of Pediatrics, Endocrinology, Diabetology with a Cardiology Division, Medical University of Bialystok
  6. 6Institute of Medical Sciences, Medical College of Rzeszow University, University of Rzeszow
  7. 7Doctoral School, Poznan University of Medical Sciences
  8. 8Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences
  9. 9Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw
  10. 10Department of Pediatrics, Diabetology and Endocrinology, University Clinical Center in Gdansk
  11. 11Department of Pediatric and Adult Endocrinology, Medical University of Lodz
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Abstract

Introduction: Resistance to thyroid hormone (TH) β (RTHβ) is a rare genetic disorder caused by mutations in the TH receptor β gene ( THRB ) and characterized by elevated TH levels with non-suppressed thyroid-stimulating hormone (TSH) and variable clinical presentation. The aim of the study was to characterize the clinical and biochemical features of children with RTHβ, correlate them with genetic findings and therapeutic management, to raise clinicians’ awareness of the specific characteristics of the condition.

Material and methods: This retrospective multicenter case series included 15 children with genetically confirmed THRB variants. Clinical, laboratory, imaging, and treatment data were analyzed retrospectively.

Results: All the patients demonstrated elevated free thyroxine and free triiodothyronine concentrations with detectable, non-suppressed TSH serum level. Common findings included tachycardia (73%), neurodevelopmental disturbances (60%), and a lean phenotype (BMI <10th percentile, 53%). Misdiagnosis of primary hyperthyroidism occurred in 20% of cases. Most patients did not require pharmacological treatment or were managed with beta-blockers alone for symptomatic tachycardia control.

Discussion: Pediatric RTHβ shows consistent biochemical features but marked clinical heterogeneity. Awareness is essential to ensure accurate diagnosis and avoid unnecessary therapy.

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Cite

BibTeXRIS
BibTeX
@article{fedorczak2026clinical,
  title = {{Clinical manifestations of resistance to thyroid hormone beta (RTHβ) syndrome in children – multicenter case series}},
  author = {Anna Fedorczak and Martyna Sokół and Iwona Beń-Skowronek and Magdalena Mierzwa and Agnieszka Zachurzok and Agnieszka Bogusz-Wójcik and Julia Przybylak-Ortega and Elżbieta Moszczyńska and Paulina Berezowiec and Artur Bossowski and Natalia Dąbek and Artur Mazur and Kamil Dyrka and Marek Niedziela and Magdalena Makowiecka-Wołek and Robert Śmigiel and Agnieszka Ulenberg and Małgorzata Myśliwiec and Renata Stawerska},
  journal = {Frontiers in Endocrinology},
  year = {2026},
  month = oct,
  doi = {10.3389/fendo.2026.1972541},
  url = {https://www.frontiersin.org/articles/10.3389/fendo.2026.1972541/full},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Clinical manifestations of resistance to thyroid hormone beta (RTHβ) syndrome in children – multicenter case series
AU  - Anna Fedorczak
AU  - Martyna Sokół
AU  - Iwona Beń-Skowronek
AU  - Magdalena Mierzwa
AU  - Agnieszka Zachurzok
AU  - Agnieszka Bogusz-Wójcik
AU  - Julia Przybylak-Ortega
AU  - Elżbieta Moszczyńska
AU  - Paulina Berezowiec
AU  - Artur Bossowski
AU  - Natalia Dąbek
AU  - Artur Mazur
AU  - Kamil Dyrka
AU  - Marek Niedziela
AU  - Magdalena Makowiecka-Wołek
AU  - Robert Śmigiel
AU  - Agnieszka Ulenberg
AU  - Małgorzata Myśliwiec
AU  - Renata Stawerska
PY  - 2026
DA  - 2026/10/15
JO  - Frontiers in Endocrinology
DO  - 10.3389/fendo.2026.1972541
UR  - https://www.frontiersin.org/articles/10.3389/fendo.2026.1972541/full
AB  - Introduction: Resistance to thyroid hormone (TH) β (RTHβ) is a rare genetic disorder caused by mutations in the TH receptor β gene ( THRB ) and characterized by elevated TH levels with non-suppressed thyroid-stimulating hormone (TSH) and variable clinical presentation. The aim of the study was to characterize the clinical and biochemical features of children with RTHβ, correlate them with genetic findings and therapeutic management, to raise clinicians’ awareness of the specific characteristics of the condition.  Material and methods: This retrospective multicenter case series included 15 children with genetically confirmed THRB variants. Clinical, laboratory, imaging, and treatment data were analyzed retrospectively.  Results: All the patients demonstrated elevated free thyroxine and free triiodothyronine concentrations with detectable, non-suppressed TSH serum level. Common findings included tachycardia (73%), neurodevelopmental disturbances (60%), and a lean phenotype (BMI <10th percentile, 53%). Misdiagnosis of primary hyperthyroidism occurred in 20% of cases. Most patients did not require pharmacological treatment or were managed with beta-blockers alone for symptomatic tachycardia control.  Discussion: Pediatric RTHβ shows consistent biochemical features but marked clinical heterogeneity. Awareness is essential to ensure accurate diagnosis and avoid unnecessary therapy.
SN  - 1664-2392
ER  -