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Update on resistance to thyroid hormone syndromeβ
Hongping Sun1,2, Lin Cao1,2, Rendong Zheng1,2
1Endocrine and Diabetes Center, Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine, No.100, Shizi Street, Hongshan Road, Nanjing, 210028, China.
Abstract:
Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) is characterized by a decreased response of the target tissue to thyroid hormone, increased serum levels of free triiodothyronine (FT3) and/or free thyroxine (FT4), and inappropriate secretion of thyroid-stimulating hormone (TSH, normal or elevated). Clinical manifestations of RTH-β vary from hyperthyroidism to hypothyroidism or simple goiter, and RTH-β is often misdiagnosed clinically. The present review was prepared for the purpose of expanding knowledge of RTH-β in order to reduce the rate of misdiagnosis.
Insights
Resistance to thyroid hormone syndrome type beta (RTH-β) is a genetic disorder affecting thyroid hormone receptors. Understanding RTH-β is crucial to reduce misdiagnosis of its varied clinical symptoms.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Resistance to thyroid hormone syndrome (RTH) is a genetic disorder impacting thyroid hormone receptor genes (THR-α and THR-β).
- RTH due to THR-β gene mutations (RTH-β) presents with diminished target tissue response to thyroid hormone, elevated free triiodothyronine (FT3) and/or free thyroxine (FT4) levels, and abnormal thyroid-stimulating hormone (TSH) secretion.
- Clinical presentations of RTH-β range from hyperthyroidism to hypothyroidism or goiter, frequently leading to diagnostic challenges.
Purpose of the Study:
- To enhance understanding of RTH-β.
- To provide comprehensive knowledge on RTH-β to aid clinicians.
- To reduce the incidence of misdiagnosis for RTH-β.
Main Methods:
- Literature review on RTH-β genetics and clinical manifestations.
- Analysis of diagnostic criteria and challenges associated with RTH-β.
- Synthesis of current knowledge on thyroid hormone receptor mutations and their effects.
Main Results:
- RTH-β results from mutations in the THR-β gene, affecting thyroid hormone signaling.
- Key biochemical findings include elevated FT3/FT4 and normal/high TSH.
- Clinical heterogeneity complicates diagnosis, with symptoms mimicking other thyroid conditions.
Conclusions:
- Accurate diagnosis of RTH-β requires careful consideration of genetic, biochemical, and clinical data.
- Increased awareness and knowledge of RTH-β are essential for appropriate clinical management.
- Further research may elucidate the full spectrum of RTH-β and improve diagnostic accuracy.
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