Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid hormone resistance

Thyroid hormone resistance is characterized by euthyroid goiter despite of excessively elevated thyroid hormone levels. Goiter is caused by elevated TSH levels that require inappropriately hight doses of thyroid hormone. Several forms of thyroid hormone resistance can be distinguished. Best characterized are thyroid hormone receptor mutations. Other causes are thyroid hormone cell transport defect, thyroid hormone metabolism defect, abnormal hormone transfer to the nucleus, abnormal cofactors or interfering substances, RXRA for instance.

Systematic

Disorder of the thyroid hormon system
Hyperthyroidism
Hypothyroidism
Susceptibility to autoimmune thyroid disease
Thyroid cancer
Thyroid hormone resistance
Abnormal thyroid hormone metabolism
SECISBP2
Allan-Herndon-Dudley syndrome
SLC16A2
RXRA
Thyroid hormone resistance, generalized, autosomal dominant
THRA
THRB
Thyroid hormone resistance, generalized, autosomal recessive
THRB
Thyroid hormone resistance, selective pituitary
THRB

References:

1.

Mamanasiri S et al. (2006) Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.

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2.

Usala SJ et al. (1991) A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.

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3.

Usala SJ et al. (1990) A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.

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4.

Sakurai A et al. (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.

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5.

Magner JA et al. (1986) Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei.

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6.

Pohlenz J et al. (1999) Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.

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7.

Usala SJ et al. (1988) Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene.

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8.

Gharib H et al. (1985) Familial euthyroid hyperthyroxinemia secondary to pituitary and peripheral resistance to thyroid hormones.

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9.

Hopwood NJ et al. (1986) Familial partial peripheral and pituitary resistance to thyroid hormone: a frequently missed diagnosis?

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10.

Elewaut A et al. (1976) Familial partial target organ resistance to thyroid hormones.

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11.

Bantle JP et al. (1982) Resistance to thyroid hormones. A disorder frequently confused with Graves' disease.

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12.

Brooks MH et al. (1981) Familial thyroid hormone resistance.

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13.

Maxon HR et al. (1980) Euthyroid, familial hyperthyroxinemia.

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14.

Refetoff S et al. (1993) The syndromes of resistance to thyroid hormone.

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15.

Hauser P et al. (1993) Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone.

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16.

Weiss RE et al. (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.

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17.

OMIM.ORG article

Omim 188570 [^]
18.

Orphanet article

Orphanet ID 3221 [^]
19.

Wikipedia article

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