Work

Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta

Year: 2024

Type: article

Abstract: Objective: Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The present study aimed to evaluate the clinical and laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ. Methods: Patients who underwent a THRβ gene analysis between September 2019 and September 2023 were retrospectively reviewed. Results: in 30 patients from 8 unrelated families. Although most patients with RTHβ were asymptomatic, seven patients exhibited various symptoms. Moreover, seven patients had received various treatments before diagnosis. Thyroid autoantibody was positive in 23% of all cases with a variant, and goitre was detected in 56% of children with a variant. While thyroid nodules were detected in seven adult patients, two adults had been diagnosed with papillary thyroid cancer. One child had attention-deficit disorder, learning disability, and type 1 diabetes mellitus. Of the 20 patients without a variant, TSHoma was detected in one. Conclusion: gene and regular follow-up because of the apparent risk of concurrent autoimmune diseases or thyroid cancer is warranted.

Source: Journal of Clinical Research in Pediatric Endocrinology

DOI: 10.4274/jcrpe.galenos.2024.2024-8-14