Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid hormone resistance, generalized, autosomal recessive

Refetoff syndrome is an autosomal recessive disorder of thyroid hormone resistance caused by mutations of the throid hormon receptor gene (THRB). The clinical picture includes hight levels of thyroid hormone and also hight TSH. The hight TSH levels result in Goiter and require inapproprately hight doses of thyroid homone to become reduced.

Systematic

Thyroid hormone resistance
Abnormal thyroid hormone metabolism
Allan-Herndon-Dudley syndrome
RXRA
Thyroid hormone resistance, generalized, autosomal dominant
Thyroid hormone resistance, generalized, autosomal recessive
THRB
Thyroid hormone resistance, selective pituitary

References:

1.

Refetoff S et al. (1972) Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone.

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2.

Takeda K et al. (1991) Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.

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3.

Charles MA et al. (1975) Nuclear receptors for thyroid hormone: evidence for nonrandom distribution within chromatin.

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4.

None (1985) Thyroid hormone action at the nuclear level.

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5.

None (1973) Congenital euthyroid goitre and partial peripheral resistance to thyroid hormones.

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6.

Bode HH et al. (1973) Partial target organ resistance to thyroid hormone.

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7.

None (1982) Syndromes of thyroid hormone resistance.

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8.

Ohzeki T et al. (1984) Thyroid hormone unresponsiveness in two siblings with intrauterine growth retardation exophthalmos.

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9.

Refetoff S et al. (1980) Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone.

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10.

OMIM.ORG article

Omim 274300 [^]
11.

Wikipedia article

Wikipedia EN (Thyroid_hormone_resistance) [^]
Update: April 29, 2019