A szerzők egy izodicentrikus Y-kromoszómát tartalmazó kariotípusú kevert gonáddiszgenezises esetükről számolnak be, melyet fiatal csecsemőkorban diagnosztizáltak. Szükségesnek tartják a perineoscrotalis hypospadiasissal és az egy- vagy kétoldali hereleszállás zavarával született újszülöttek speciális kivizsgálását közvetlenül a szülés után. A részletes kivizsgálás eredménye biztosítja a korrekt nemi besorolást és a diszgenetikus gonád malignus elfajulásának megelőzését.
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