Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid hormone resistance, generalized, autosomal dominant

Thyroid hormone unresponsiveness is an autosomal dominant disorder of thyroid hormone resistance caused by mutations of the throid hormon receptor genes beta (THRB) and alpha (THRA) subunits. The clinical picture includes hight levels of thyroid hormone. TSH is also hight and stimulated the growth of the thyroid gland (goiter). The hight TSH levels require inapproprately hight doses of thyroid homone.

Systematic

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

References:

1.

van Gucht ALM et al. (2017) Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.

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2.

Moran C et al. (2015) Resistance to thyroid hormone due to defective thyroid receptor alpha.

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3.

Vlaeminck-Guillem V et al. (2015) TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.

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4.

Tang Y et al. (2016) Resistance to thyroid hormone α, revelation of basic study to clinical consequences.

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5.

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

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6.

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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7.

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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8.

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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9.

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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10.

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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11.

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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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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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21.

OMIM.ORG article

Omim 188570 [^]
22.

Orphanet article

Orphanet ID 97927 [^]
Update: April 29, 2019