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Two Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β):

A M Esquiaveto-Aun1,2,3, D E Zantut-Wittmann4, R J Petroli2

  • 1Department of Pediatrics, Faculty of Medical Sciences (FCM), University of Campinas (UNICAMP), Campinas, Brazil.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme
|March 5, 2015
PubMed

Insights

This study identifies two novel mutations in the THRB gene causing resistance to thyroid hormone beta (RTH β), a genetic disorder affecting thyroid hormone sensitivity. These findings aid in diagnosing RTH β through molecular analysis.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Resistance to thyroid hormone beta (RTH β) is an inherited condition with variable tissue insensitivity to thyroid hormones.
  • It is characterized by elevated free thyroid hormone levels (FT3 and FT4) and non-suppressed TSH.
  • Molecular analysis of the THRB gene is crucial for diagnosis.

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