Klinefelter Syndrome: An Integrative Review of Clinical Features, Diagnosis, and Management

Klinefelter syndrome (KS), characterised by the presence of an extra X chromosome in males (47, XXY), is the most common sex chromosome aneuploidy, affecting approximately 1 in 600 live male births. Despite its prevalence, KS remains underdiagnosed due to its variable clinical presentation, including hypogonadism, infertility, and neurocognitive challenges. This review summarises current understanding of KS epidemiology, pathophysiology, clinical features, diagnosis, and management, highlighting the importance of early identification and multidisciplinary care to improve patient outcomes.