Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

TRH-Mangel

Der TRH-Mangel ist eine autosomal rezessive Erkrankung, die durch Mutationen im TRH-Gen ausgelöst wird.

Gliederung

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

Referenzen:

1.

Mitnick M et. al. (1972) Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase".

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2.

Foresti V et. al. (1985) Central hypothyroidism: isolated thyrotropin-releasing hormone deficiency or resistance of pituitary thyrotropes?

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3.

Katakami H et. al. (1984) Hypothalamic hypothyroidism due to isolated thyrotropin-releasing hormone (TRH) deficiency.

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4.

Niimi H et. al. (1982) Congenital isolated thyrotrophin releasing hormone deficiency.

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