PATHOPHYSIOLOGY AND IMPACTS OF KLINEFELTER SYNDROME

Abstract

This article aimed to gather and organize the main pathophysiological, clinical, and therapeutic aspects of Klinefelter Syndrome (KS), aiming to update multidisciplinary management. A qualitative narrative literature review was conducted, selecting 30 publications (2011-2026) from databases such as PubMed and SciELO. The results demonstrate that KS, usually arising from the 47,XXY karyotype, causes testicular dysfunction, resulting in hypergonadotropic hypogonadism and infertility. In addition to reproductive manifestations, metabolic (central obesity, osteopenia) and neurocognitive (language and executive function deficits) impacts were identified. Advances in Testosterone Replacement Therapy, micro-TESE/ICSI techniques for fertility, and psychosocial interventions are discussed. It is concluded that the diagnosis, often delayed, requires early recognition and an integrated approach among endocrinologists, urologists, speech therapists, and psychologists. Such a strategy is fundamental to mitigate complications and promote the improvement of the quality of life of affected individuals.