Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta
The present study provides an overview of clinical and genetic characteristics of patients with genetically confirmed RTHβ and expanded the <i>THRB</i> gene variant database with three novel variants. Although most patients with RTHβ are asymptomatic, molecular genetic analysis of the <i>THRB</i> gene and regular follow-up because of the apparent risk of concurrent autoimmune diseases or thyroid cancer is warranted.
Authors
- Büşranur Çavdarlı (ORCID: https://orcid.org/0000-0002-0953-6210)
- Gönül Büyükyılmaz (ORCID: https://orcid.org/0000-0001-7888-7295)
- Mehmet Boyraz (ORCID: https://orcid.org/0000-0002-4289-9128)
- Fatih Gürbüz (ORCID: https://orcid.org/0000-0003-2160-9838)
- Sema Hepşen (ORCID: https://orcid.org/0000-0002-8375-7409)
- Erman Çakal (ORCID: https://orcid.org/0000-0003-4455-7276)
- Keziban Toksoy Adıgüzel (ORCID: https://orcid.org/0000-0003-1606-4781)
- Oya Topaloğlu (ORCID: https://orcid.org/0000-0003-2501-935X)
- Hüseyin Demirbilek (ORCID: https://orcid.org/0000-0001-6374-5884)
- Cevdet Aydın (ORCID: https://orcid.org/0000-0003-1552-706X)
- Serkan Bilge Koca (ORCID: https://orcid.org/0000-0002-9724-2369)
- Nur Semerci Gündüz
Institutions
- Ankara University (TR)
- Turkish Armed Forces (TR)
- Nicosia General Hospital (CY)
- Memorial Ankara Hospital (TR)
- Kayseri Eğitim ve Araştırma Hastanesi (TR)
- Başkent University Hospital (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- Ankara Yıldırım Beyazıt University (TR)
- Ankara Bilkent City Hospital (TR)
- Hacettepe University (TR)
Publication Details
- Journal
- Journal of Clinical Research in Pediatric Endocrinology
- Published
- 2024-12-23
- DOI
- https://doi.org/10.4274/jcrpe.galenos.2024.2024-8-14
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00