Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Generalisierte TRH-Resistenz

Die generalisierte TRH-Resistenz ist eine autosomal rezessive Erkrankung bei welcher das den TRH-Rezeptor kodierende Gen mutiert ist. Charakteristisch für die Erkrankung ist ein Nichtansprechen der TSH- und Prolactin-Sekretion beim TRH-Test.

Gliederung

Zentrale Hypothyreose
Generalisierte TRH-Resistenz
TRHR
TRH-Mangel
Zentrale Hypothyreose und Makroorchidie

Referenzen:

1.

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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2.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

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

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