{
  "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.\n\nMaterial and methods: This retrospective multicenter case series included 15 children with genetically confirmed THRB variants. Clinical, laboratory, imaging, and treatment data were analyzed retrospectively.\n\nResults: 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.\n\nDiscussion: Pediatric RTHβ shows consistent biochemical features but marked clinical heterogeneity. Awareness is essential to ensure accurate diagnosis and avoid unnecessary therapy.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Endocrinology and Metabolic Diseases, Polish Mother’s Memorial Hospital—Research Institute",
    "Department of Pediatric Endocrinology and Diabetology with the Endocrinology and Metabolic Laboratory, Medical University of Lublin",
    "Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia",
    "Department of Endocrinology and Diabetology, Children’s Memorial Health Institute",
    "Department of Pediatrics, Endocrinology, Diabetology with a Cardiology Division, Medical University of Bialystok",
    "Institute of Medical Sciences, Medical College of Rzeszow University, University of Rzeszow",
    "Doctoral School, Poznan University of Medical Sciences",
    "Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences",
    "Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw",
    "Department of Pediatrics, Diabetology and Endocrinology, University Clinical Center in Gdansk",
    "Department of Pediatric and Adult Endocrinology, Medical University of Lodz"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 19,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Anna Fedorczak"
    },
    {
      "affs": [
        1
      ],
      "name": "Martyna Sokół"
    },
    {
      "affs": [
        1
      ],
      "name": "Iwona Beń-Skowronek"
    },
    {
      "affs": [
        2
      ],
      "name": "Magdalena Mierzwa"
    },
    {
      "affs": [
        2
      ],
      "name": "Agnieszka Zachurzok"
    },
    {
      "affs": [
        3
      ],
      "name": "Agnieszka Bogusz-Wójcik"
    },
    {
      "affs": [
        3
      ],
      "name": "Julia Przybylak-Ortega"
    },
    {
      "affs": [
        3
      ],
      "name": "Elżbieta Moszczyńska"
    },
    {
      "affs": [
        4
      ],
      "name": "Paulina Berezowiec"
    },
    {
      "affs": [
        4
      ],
      "name": "Artur Bossowski"
    },
    {
      "affs": [
        5
      ],
      "name": "Natalia Dąbek"
    },
    {
      "affs": [
        5
      ],
      "name": "Artur Mazur"
    },
    {
      "affs": [
        6,
        7
      ],
      "name": "Kamil Dyrka"
    },
    {
      "affs": [
        7
      ],
      "name": "Marek Niedziela"
    },
    {
      "affs": [
        8
      ],
      "name": "Magdalena Makowiecka-Wołek"
    },
    {
      "affs": [
        9
      ],
      "name": "Robert Śmigiel"
    },
    {
      "affs": [
        9
      ],
      "name": "Agnieszka Ulenberg"
    },
    {
      "affs": [
        9
      ],
      "name": "Małgorzata Myśliwiec"
    },
    {
      "affs": [
        0,
        10
      ],
      "name": "Renata Stawerska"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/f3anea3gafqeg.bib",
  "cited_by": 0,
  "doi": "10.3389/fendo.2026.1972541",
  "fulltext_url": null,
  "id": "f3anea3gafqeg",
  "issns": [
    "1664-2392"
  ],
  "landing_url": "https://www.frontiersin.org/articles/10.3389/fendo.2026.1972541/full",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2712|Thyroid Disorders and Treatments"
    ]
  ],
  "openalex": "W7222273478",
  "pdf_url": "https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2026.1972541/pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-15",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/f3anea3gafqeg.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:20Z",
      "native_id": "10.3389/fendo.2026.1972541",
      "source": "crossref",
      "url": "https://www.frontiersin.org/articles/10.3389/fendo.2026.1972541/full"
    }
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2712|Thyroid Disorders and Treatments",
      "subfield": "endocrinology-metabolism"
    }
  ],
  "title": "Clinical manifestations of resistance to thyroid hormone beta (RTHβ) syndrome in children – multicenter case series",
  "title_text": "Clinical manifestations of resistance to thyroid hormone beta (RTHβ) syndrome in children – multicenter case series",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:20:20Z",
  "url": "https://research.draconitic.com/paper/f3anea3gafqeg",
  "venue": "Frontiers in Endocrinology",
  "versions": []
}