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Resistance to thyroid hormone: an historical overview
1Department of Medicine, University of Chicago, Illinois 60637.
Thyroid : Official Journal of the American Thyroid Association
|January 1, 1994
Summary
Resistance to thyroid hormone (RTH) is an inherited disorder with high thyroid hormone levels and normal TSH. Mutations in the thyroid hormone receptor beta gene cause RTH, leading to varied symptoms due to altered receptor interactions.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Resistance to thyroid hormone (RTH) is a rare genetic disorder.
- Characterized by decreased tissue sensitivity to thyroid hormones.
- Presents with elevated thyroid hormone levels and unsuppressed TSH.
Observation:
- Clinical manifestations of RTH are often nonspecific.
- Misdiagnosis can occur due to persistent TSH secretion despite high thyroid hormone levels.
- Over 400 cases identified, mostly autosomal dominant inheritance.
Findings:
- Mutations in the thyroid hormone receptor beta (TR beta) gene identified in 68 RTH families.
- Mutations are in the T3-binding domain, affecting hormone binding.
- Clinical heterogeneity and dominant inheritance linked to mutant TR beta interactions with normal TRs and other factors.
Implications:
- Understanding RTH mechanisms aids in accurate diagnosis and management.
- Identifies specific genetic targets for potential therapies.
- Highlights the complexity of hormone receptor signaling and genetic inheritance.