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.
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OMIM.ORG article Omim 219080![]() |