The Klinefelter Puberty

Klinefelter syndrome (KS) is a common genetic disorder characterized by an additional X chromosome in males. A deficient androgen production and a varied observed response of end-organs to testosterone can lead to delayed progression of puberty with reduction in muscle development and facial/body hair, osteoporosis, and gynecomastia. Medical management during puberty focuses on the preservation of fertility and testosterone replacement treatment (TRT) to reduce the current or future consequences of testicular fibrosis. However, more research is needed to establish the need and conditions for TRT in adolescence, as well as the opportunity and timing for sperm recovery in adolescents and young boys with KS. Furthermore, screening for associated diseases such as metabolic syndrome, osteoporosis, and malignancies should be guaranteed during this lifetime. Preventive care should be provided by diagnosis, ideally through a multidisciplinary approach.