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Familial thyroid hormone resistance
Metabolism: Clinical and Experimental
|May 1, 1982
Summary
Three family members had elevated thyroid hormones but no symptoms, indicating peripheral resistance to thyroid hormone. Further research is needed to understand this rare endocrine disorder.
Area of Science:
- Endocrinology
- Molecular Endocrinology
- Genetics
Background:
- Thyroid hormones regulate metabolism and development.
- Peripheral resistance to thyroid hormone (PRTH) is a rare genetic disorder.
- Patients often present with variable clinical manifestations.
Observation:
- Three phenotypically normal individuals exhibited elevated thyroid function tests (T4, free T4, T3, 123I uptake).
- Clinical assessment revealed they were euthyroid, with normal basal metabolic rate, cholesterol, pulse wave arrival time, and sex hormone-binding globulin.
- Serum TSH was inappropriately elevated relative to thyroid hormone levels; alpha subunit levels were normal.
Findings:
- Pituitary and peripheral indices supported a diagnosis of PRTH.
- TSH responses to TRH were commensurate with basal TSH levels.
- TSH levels decreased following administration of T3, dexamethasone, and bromocriptine.
- Thyroid hormone binding to mononuclear leukocyte nuclei extracts showed no abnormalities.
Implications:
- PRTH diagnosis can be challenging, requiring comprehensive assessment.
- Evaluating pituitary TSH secretory dynamics and peripheral thyroid hormone action is crucial.
- The underlying molecular mechanisms of this observed resistance remain to be elucidated.
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