hrp0086p2-p432 | Gonads & DSD P2 | ESPE2016

45,X/47,XYY Chromosomal Mosaicism as a Cause of 46,XY Disorder of Sex Development

Anik Ahmet , Kasikci Esma Tugba , Sahin Suzan , Unuvar Tolga , Turkmen Munevver Kaynak

45,X/47,XYY mosaicism is quite rare, and, like 45,X/46,XY, it can be associated with mixed gonadal dysgenesis, Turner syndrome or apparently normal male/female phenotype. An infant aged 16 days, born full-term via spontaneous vaginal delivery to a 32 year-old G1P1 woman. His pregnancy and perinatal period were both uncomplicated except for maternal long QT syndrome. There was third degree cousin consanguinity between the parents. There was no any virilizing drug use and no mat...