Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Wachstumshormon-Unempfindlichkeit

Die Wachstumshormon-Unempfindlichkeit fasst Störungen zusammen, bei denen die Wirkungslosigkeit des Hormons einen Wachstumsschub auszulosen das gemeinsame Merkmal ist.

Geschichtliches

Die Resistenz gegenüber Wachstumshormon wurde 1966 von Laron erstmalig beschrieben. Er beschrieb eine konsanguine jüdische Familie aus dem Jemen mit 3 etrem wachtstumsretardierten Kindern. Bei den Betroffenen fanden sich eher erhöhte Wachstumshormonspiegel.[Error: Macro 'ref' doesn't exist]

Im Jahr 1989 urde mit der Entdeckung und vollständigen beschreibung des Gens die Möglichkeit eröffnet, die Erkrankung molekulargenetisch zu beschreiben.[Error: Macro 'ref' doesn't exist]

Die Dual effector Hypothese brachte den Durchbruch beim Verständnis der Wachstumhormonkontrolle. Sie wurde vim Jahr 1985 von Green entwickelt. Nach dieser Hypothese stimuliert Wachtsumshormon die lokale IGF1-produktion, welche dann in einer autocrinen oder paracrinen Weise die lokalen Wachstumsprozesse anschiebt.[Error: Macro 'ref' doesn't exist]

Gliederung

Störungen der Regulation des Wachstums
ADAMTSL3
Kombinierter Hypophysenhormon-Mangel
Wachstumshormon-Mangel
Wachstumshormon-Unempfindlichkeit
IGFBP3
Insulinähnlicher Wachtumsfaktor 1 Mangel
IGF1
Insulinähnlicher Wachtumsfaktor 1 Resistenz
IGF1R
Insulinähnlicher Wachtumsfaktor 1-Transportproteinmangel
IGFALS
Laron-Syndrom
GHR
SH2B1
Wachstumshormoninsensitivität mit Immundefizit
STAT5B
Wachstumshormon-Überempfindlichkeit

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Update: 14. August 2020
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