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.
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Orphanet article Orphanet ID 231720 |