Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Generalized thyrotropin-releasing hormone resistance

Generalized thyrotropin-releasing hormone resistance is an autosomal recessive disorder caused by mutations of the TRH receptor gene. It is characterized by an absense of TSH and prolactin response after TRH administration.

Systematic

Central hypothyroidism
Central hypothyroidism and testicular enlargement
Generalized thyrotropin-releasing hormone resistance
TRHR
Thyrotropin-releasing hormone deficiency

References:

1.

Yamada M et al. (1993) Assignment of human thyrotropin-releasing hormone (TRH) receptor gene to chromosome 8.

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2.

Matre V et al. (1993) Molecular cloning of a functional human thyrotropin-releasing hormone receptor.

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3.

Bonomi M et al. (2009) A family with complete resistance to thyrotropin-releasing hormone.

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4.

Zhao D et al. (1992) Molecular cloning of a complementary deoxyribonucleic acid encoding the thyrotropin-releasing hormone receptor and regulation of its messenger ribonucleic acid in rat GH cells.

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5.

Straub RE et al. (1990) Expression cloning of a cDNA encoding the mouse pituitary thyrotropin-releasing hormone receptor.

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6.

Lossie AC et al. (1993) Localization of thyrotropin-releasing hormone receptor and thyrotroph embryonic factor on mouse chromosome 15.

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7.

Morrison N et al. (1994) Assignment of the gene encoding the human thyrotropin-releasing hormone receptor to 8q23 by fluorescence in situ hybridization.

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8.

OMIM.ORG article

Omim 188545 [^]
Update: April 29, 2019