Resistance to thyroid hormone

Also known as: Refetoff syndrome

Reduced tissue sensitivity to thyroid hormone with elevated T4 and non-suppressed TSH.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Thyroid disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: SBP2, SLC16A2, THRA, THRB

Etiology & mechanism

Dominant negative THRB variants.

Gene(s) involved (4)

SBP2SLC16A2THRATHRB

Symptoms & signs (8)

attention deficitelevated thyroid hormonesgoiterhearing losshyperactivitynormal tshshort staturetachycardia

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