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  • 1 Honvédkórház-Állami Egészségügyi Központ II. Belgyógyászati Osztály, Endokrinológiai Szakprofil Budapest
  • 2 Barts and the London School of Medicine, Queen Mary University of London Department of Endocrinology, St. Bartholomew’s Hospital Charterhouse Square London EC1M 6BQ UK
  • 3 Országos Idegsebészeti Tudományos Intézet Budapest
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A családi halmozódást mutató hypophysisadenomák 1-es típusú multiplex endokrin neoplasia, Carney-komplex és familiáris izolált hypophysisadenoma formájában nyilvánulhatnak meg. A familiáris izolált hypophysisadenoma autoszomális dominánsan öröklődő megbetegedés, ami inkomplett penetranciát mutat. Jellemzője, hogy az agyalapi mirigy adenomája mellett nem jelentkezik más jellegzetes tumor. Familiáris izolált hypophysisadenomában szenvedő családok 20–40%-ában mutatható ki az aryl hydrocarbon receptor interacting protein gén mutációja, míg a családok nagyobb részénél a betegséget okozó gén még nem ismert. Az aryl hydrocarbon receptor interacting protein génmutációja esetén a családok fenotípusa eltér a mutációt nem hordozó családokétól, mert ezekben a betegség fiatalabb életkorban jelentkezik, és leggyakrabban szomatotrop vagy laktotrop adenoma fejlődik ki. Az aryl hydrocarbon receptor interacting protein gén csírasejtes mutációja ritkán sporadikus esetekben is kimutatható, elsősorban gyermek- vagy serdülőkorban diagnosztizált acromegaliás esetekben. Tekintettel a betegség öröklődő jellegére, a családtagok genetikai és klinikai szűrővizsgálata az esetleges tumor jelenlétének mielőbbi felismerését és kezelését teszi lehetővé. Orv. Hetil., 2011, 152, 722–730.

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