Endocrinology · Endocrinology / Thyroid disorders
Resistance to thyroid hormone
also: Refetoff syndrome
Reduced tissue sensitivity to thyroid hormone with elevated T4 and non-suppressed TSH.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Thyroid disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- SBP2, SLC16A2, THRA, THRB
- Alternative names & eponyms
- Refetoff syndrome
Etiology & mechanism
Dominant negative THRB variants.
Gene(s) involved (4)
Symptoms & signs (8)
In plain terms, someone with Resistance to thyroid hormone may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Hajdu–Cheney syndrome
hearing loss, short stature
2 shared
Hunter syndrome
hearing loss, short stature
2 shared
Marshall syndrome
hearing loss, short stature
2 shared
MERRF syndrome
hearing loss, short stature
2 shared
Smith–Magenis syndrome
hearing loss, short stature
2 shared
Turner syndrome
hearing loss, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Alcohol withdrawal syndrome
tachycardia
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
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