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Isolierter rezessiver Wachstumshormonmangel Typ 1A

Der isolierte Wachstumshormonmangel vom Typ 1A ist eine autosomal rezessive Erkrankung, die durch eine völliges Fehlen des Wachstumshormons gekennzeichnet ist. Meist liegen dem schwere Mutationen zugrunde, welche das gesamte Gen ausschalten (große Deletionen zum Beispiel). Die Patienten zeigen eine ausgeprägte Wachstumretardierung und deutlich verzögerte Knochenreife. Gegen das substituierte Wachstumshormon werden nicht selten Antikörper entwickelt.

Gliederung

Wachstumshormon-Mangel
GH1
Isolierter dominanter Wachstumshormonmangel
Isolierter rezessiver Wachstumshormonmangel Typ 1A
GH1
Isolierter rezessiver Wachstumshormonmangel Typ 1B
Isolierter x-chromosomaler Wachstumshormonmangel
Kowarski-Syndrom
Wachstumshormon-Sekretagogum-Resistenz

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OMIM.ORG article

Omim 262400 external link
Update: 14. August 2020
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