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A polycystás ovarium szindróma a leggyakoribb heterogén endokrin rendellenesség reproduktív korú nőkben. A szindróma továbbra is rejtélyes rendellenesség, amelynek etiológiája még nem tisztázott. Családi előfordulása viszonylag gyakori polycystás ovarium szindrómában szenvedő betegek körében, ami jelentős genetikai komponensre utal, jóllehet, az öröklődés módja nem tisztázott. A szerzők orvosi irodalmi adatok alapján áttekintették a genetikai és környezeti tényezők szerepét a polycystás ovarium szindróma kialakulásában. A mai napig még nem azonosítottak olyan gént, ami okozza vagy jelentős mértékben hozzájárul a kórkép fenotípusának kialakításához. A polycystás ovarium szindrómát olyan genetikai rendellenességnek kell tekinteni, amelyben számos genetikai és környezeti tényező kölcsönhatása határozza meg a heterogén klinikai és biokémiai fenotípust. Összefoglalva a jelenlegi bizonyítékokat, a szerzők arra a következtetésre jutottak, hogy a környezeti tényezők azonosítása és módosítása lehetségessé teszi azon személyek egészségének hatékonyabb védelmét, akiknél a genotípus vagy korábbi környezeti hatások hajlamosítanak a betegség kifejlődésére. Orv. Hetil., 2013, 154, 650–657.

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