Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kombinierter Hypophysenhormon-Mangel

Der kombinierter Hypophysenhormon-Mangel ist eine Gruppe von Erkrankungen mit Entwicklungsstörungen der Hypophyse. Ursächlich sind Mutationen in verschiedenen TRanskriptionsfaktoren, die für die Entwicklung der Hypophyse vernantwortlich sind. Klinische Erscheinungen sind durch den Hypophysenhormon-Mangel geprägt. Hinzu können aber noch weitere Störungen im Zentralnervensystem vorhanden sein. Die Vererbung kann sowohl dominant als auch rezessiv erfolgen.

Gliederung

Störungen der Regulation des Wachstums
Kleinwuchs, SHOX-bedingt
Kombinierter Hypophysenhormon-Mangel
Hyophysenhormonmangel Typ 1
POU1F1
Hyophysenhormonmangel Typ 2
PROP1
Hyophysenhormonmangel Typ 3
LHX3
Hyophysenhormonmangel Typ 4
LHX4
Hyophysenhormonmangel Typ 5
HESX1
Syndromale Wachstumsstörung
Wachstumshormon-Mangel
Wachstumshormon-Unempfindlichkeit
Wachstumshormon-Überempfindlichkeit

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