A Rare Cause of Infertility: 48XXYY Syndrome

Apparently, genetic factors, especially in oligoospermic and azoospermic patients, have been increasingly investigated in recent years. Klinefelter syndrome (KS), known as 47XXY, can be seen in up to 10% of the cases with nonobstructive azoospermia and in one in 500-1000 live births [4]. Various variants of Klinefelter syndrome have been reported. Here, a case with a genetic diagnosis of 48XXYY, which is a very rare variant of Klinefelter syndrome, will be presented.