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Thyroid Hormone Resistance in children.
1Istanbul University Cerrahpasa Medical Faculty, Department of Pediatrics, Istanbul, Turkey. oyaercan@istanbul.edu.tr
Pediatric Endocrinology Reviews : PER
|January 31, 2006
Summary
Thyroid Hormone Resistance (RTH) involves reduced tissue response to thyroid hormones, causing elevated T4/T3 and TSH levels. Most cases stem from genetic mutations affecting thyroid hormone receptor beta, leading to diverse clinical presentations.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Thyroid Hormone Resistance (RTH) presents as diminished tissue response to thyroid hormones.
- Characterized by elevated total and free T4/T3 with inappropriately normal/high TSH.
- Primarily caused by dominant mutations in the thyroid hormone receptor beta gene.
Purpose of the Study:
- To describe the characteristics and clinical presentation of RTH.
- To outline methods for assessing RTH in thyrotrophs and peripheral tissues.
- To inform individualized treatment decisions for RTH patients.
Main Methods:
- Assessing TSH secretion following L-T3 administration to evaluate thyrotroph resistance.
- Monitoring peripheral markers of thyroid hormone action after L-T3 administration.
- Analyzing genetic mutations in the thyroid hormone receptor beta gene.
Main Results:
- RTH exhibits variable target tissue responsiveness, leading to heterogeneous clinical presentations.
- Mutations in one allele of the thyroid hormone receptor beta gene block normal allele function.
- Dominantly inherited RTH results from these specific genetic alterations.
Conclusions:
- Treatment for RTH is highly individualized based on patient presentation.
- Management may involve thyroid hormone replacement or agents like beta blockers.
- Thyroid hormone analogues and antithyroid drugs can also be utilized in RTH management.