Meet Ori, Ori is XX/XY Mosaic

With a head on their shoulders several light years from a child of a similar age inclusive of XX or XY, how they got there becomes easy to comprehend when you consider what they have been through which is not something most kids of Ori’s age would ever experience. Thankfully Ori’s Mum was totally on board and placed Ori in the driver’s seat from the outset, a result we think you’ll agree has allowed for an exceptionally bright child to reach for the highest stars. We need more Mothers like her and lots more Ori’s if we are to break down stigma perpetuated by doctors and parents some of whom are hell-bent on forcing children to conform to their ideas of what it means to be human.

47 XXY Correlation
Genital anomalies, ranging from female genitalia to milder degrees of undervirilization, are rarely reported in Klinefelter syndrome, in which a male is classically expected to be born with male external genitalia. Though androgen insensitivity syndrome (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia. Lack of interest in considering androgen insensitivity in Klinefelter syndrome with a milder phenotype of genital anomalies may impede its identification through an accurate diagnosis. We present a 14-month-old boy with penoscrotal hypospadias, micropenis, and a ventral penile chordee abnormality who was observed to have both a 47,XXY karyotype and a known missense mutation in the AR gene that was inherited from his mother. Although it is recommended that Klinefelter syndrome be considered in the differential diagnosis 
of penoscrotal abnormalities, mutations in specific genes involved in androgen synthesis or responsiveness should also be investigated.