A Rare Cause of Infertility: 48XXYY Syndrome

In the evaluation of a 32-year-old male patient who was referred to our clinic with the complaint of gynecomastia and primary infertility, ennuchoid structure, hypergonadotropic hypogonadism, and azoospermia were detected. Based on these findings, the genetic evaluation revealed the presence of 48XXYY syndrome. In this case report, we aimed to report the diagnostic algorithm and management of 48 XXYY syndrome. It should be noted that fertility should not be expected in patients with 48XXYY syndrome.