Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thyroid hormone resistance, selective pituitary

Selective pituitary thyroid hormone resistance is a hereditary disorder caused by mutation of the thyroid hormone receptor. The pattern of inheritance is not clear as in the same family individuals harbouring the same genotype may show quite distinct clinical features. Pathophysiologically the splice variant is affected that is predominantly expressed in hypothalamus in in the pituitary gland. This results in a disturbed feedback and unrestricted stimulation of the thyroid gland. The clinical features include goiter and all signs of hyperthyreosis with inappropriatle elevated TRH and TSH.

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
Thyroid hormone resistance, selective pituitary
THRB

References:

1.

Gershengorn MC et al. (1975) Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of "inappropriate secretion of TSH".

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2.

Adams M et al. (1994) Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.

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3.

Geffner ME et al. (1993) An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.

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4.

Mixson AJ et al. (1993) Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone.

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5.

Sasaki S et al. (1993) Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-beta.

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6.

Aguilar Diosdado M et al. (1991) Hyperthyroidism due to familial pituitary resistance to thyroid hormone: successful control with 3, 5, 3' triiodothyroacetic associated to propranolol.

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7.

Hamon P et al. (1988) Hyperthyroidism due to selective pituitary resistance to thyroid hormones in a 15-month-old boy: efficacy of D-thyroxine therapy.

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8.

Rösler A et al. (1982) Familial hyperthyroidism due to inappropriate thyrotropin secretion successfully treated with triiodothyronine.

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9.

Spanheimer RG et al. (1982) Hyperthyroidism caused by inappropriate thyrotropin hypersecretion: studies in patients with selective pituitary resistance to thyroid hormone.

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10.

OMIM.ORG article

Omim 145650 [^]
Update: April 29, 2019