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ACTH-unabhängige makronoduläre adrenale Hyperplasie 1

Die ACTH-unabhängige makronoduläre adrenale Hyperplasie 1 ist charakterisiert durch eine Hypertrophie der Nebennierenrinde mit einer Überproduktion von Glucocorticoiden (Cushing-Syndrom), bei supprimiertem ACTH. Gelegentlich werden Mutationen im GNAS-Gen für diese Erkrankung verantwortlich gemacht.

Gliederung

Störungen des Glucocorticoidhormonsystems
ACTH-unabhängige makronoduläre adrenale Hyperplasie 1
GNAS
ACTH-unabhängige makronoduläre adrenale Hyperplasie 2
Adrenale Insuffizienz mit Erythrotrichie und Fettsucht aufgrund von POMC-Mangel
Gestörte Steroidsynthese aufgrund eines POR-Mangels
Glukokortikoid-Resistenz
Kongenitale adrenale Hyperplasie bei 17-alpha-Hydroxylase-Mangel
Störungen des Aldosteronsystems

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OMIM.ORG article

Omim 219080 external link
Update: 14. August 2020
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