Objective: The goal of this article is to present the current knowledge of Klinefelter syndrome and its impact on male reproductive function as well as the current treatment options.
Methods: PubMed/Medline, WoS and Scopus were searched for articles indexed until November 2021.
Text: Klinefelter syndrome is a chromosomal aberration with an additional X chromosome in males. This may adversely affect testicular growth and spermatogenesis, thus resulting in male infertility. Recently, new knowledge has appeared about the treatment of male infertility.
Conclusion: Interdisciplinary approach enables early dia-gnosis and treatment of patients with Klinefelter syndrome. Assisted reproductive technology is essential for infertility treatment in patients with Klinefelter syndrome.
Keywords: Aneuploidy; Klinefelter syndrome; assisted reproduction; disorders of spermatogenesis; genetic testing; male sterility.