Grand Journal of Urology
E-ISSN : 2757-7163

A Rare Cause of Infertility: 48XXYY Syndrome
Hatice Zoroglu1, Fikret Erdemir1, Nejmiye Akkus2
1Department of Urology, Tokat Gaziosmanpasa University, School of Medicine, Tokat, Turkey
2Department of Medical Genetics, Tokat Gaziosmanpasa University, School of Medicine, Tokat, Turkey
DOI : 10.5505/GJU.2022.02996
Pages : 114-116
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.
Keywords : male infertility, azoospermia, Y-chromosome deletions, Klinefelter syndrome
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