Thyroid hormone receptor beta (THRB) gene testing in resistance to thyroid hormone (RTH)

Record ID 32013000118
Authors' recommendations: Resistance to thyroid hormone (RTH) is an endocrine disorder characterized by reduced tissue responsiveness to circulating thyroid hormone. The condition, which is estimated to occur in approximately 1 in 40,000 individuals, may be diagnosed in patients with elevated levels of the thyroid hormones thyroxine (T4) and triiodothyronine (T3), along with normal to high levels of thyroid-stimulating hormone (TSH). The activity of thyroid hormone, which functions in growth, development, and the regulation of body metabolism, is mediated by thyroid hormone receptor alpha (THRA) and thyroid hormone receptor beta (THRB). RTH most often results from deleterious variants in the THRB gene, which is located on chromosome 3 at band p24.3 and encodes a liganddependent transcription factor. In the vast majority of cases, THRB-related RTH is inherited in an autosomal dominant manner. However, autosomal recessive cases have been reported, typically the result of whole gene deletions. Clinically, patients with autosomal dominant RTH may be asymptomatic or may present with a variable combination of hyperthyroid and hypothyroid symptoms, including goiter, tachycardia, hyperactivity, anxiety, insomnia, growth retardation, developmental delay, intellectual disability, delayed bone age, and hearing loss. The clinical manifestations in patients with autosomal recessive RTH are similar but often more severe, with significant intellectual disability and hearing deficits. Most RTH patients are clinically asymptomatic and receive no treatment for the condition. For symptomatic individuals, standard treatments for hyperthyroidism and hypothyroidism are typically ineffective. However, patients may benefit from the treatment of specific symptoms, and some patients with signs of thyrotoxicosis may respond to 3,5,3'-triiodothyroacetic acid (TRIAC), a thyroid hormone analog that may help decrease the secretion and activity of TSH.
Project Status: Completed
Year Published: 2012
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: United States
MeSH Terms
  • Genetic Testing
Organisation Name: HAYES, Inc.
Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name:
Contact Email:
Copyright: 2012 Winifred S. Hayes, Inc
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