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甲状腺肿大、驻站医、甲状腺功能低下、黏液性水肿、心动过缓、便秘、糖类皮质激素分泌过少、眼球震颤
Resistance to thyroid hormone (RTH) is an autosomal-dominant disorder caused by THRB (thyroid-hormone receptor beta) gene mutations, causing tissue resistance to T3. Biochemical: elevated free T4/T3 with nonsuppressed (inappropriately normal/elevated) TSH. Phenotype varies: euthyroid, mildly hypothyroid, or thyrotoxic in selected tissues. It is often misdiagnosed as Graves or thyroid-hormone overreplacement; treatment usually not required, treat clinical hypothyroidism if present.
Usually asymptomatic; high free T4/T3 with normal TSH; goiter; attention-deficit/hyperactivity; variable tachycardia
THRB mutation impairs T3 binding and receptor action, causing pituitary/peripheral tissue resistance; compensatory high TSH drives elevated hormone levels.
Usually no treatment; monitor; treat clinical hypothyroidism with T3; avoid unnecessary antithyroid therapy
Genetic counseling; family screening; avoid misdiagnosis as Graves.
It is recommended to visit the Endocrinology department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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