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Thyroid Hormone Resistance Syndrome

Definition: An inherited syndrome of peripheral resistance to thyroid hormones, transmitted as an autosomal recessive trait, characterized by increased serum concentrations of thyroxine and triiodothyronine, increased thyroid hormone binding ratio, and normal to slightly increased thyroid-stimulating hormone and its response to thyrotropin-releasing hormone. The affected persons are euthyroid to slightly hypothyroid. The absence of hypermetabolism and the presence of possible hypothyroidism indicate the existence of partial resistance to the peripheral action of thyroid hormone. (From Jablonski's Dictionary of syndromes & eponymic diseases, 1991)
Notes: in euthyroid or slightly hypothyroid persons because of unresponsiveness to thyroid hormones; differentiate from EUTHYROID SICK SYNDROME where a non-thyroid disease is also present

Thyroid Hormone Resistance Syndrome Definitions and Terms

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