Klinefelter syndrome (KFS) is a chromosomal condition affecting the physical and intellectual development of men. The associated features are so mild that the condition remains undiagnosed until puberty or adulthood, and up to 75% of affected men and boys are never diagnosed. This article briefly overviews the clinical presentation, diagnostic criteria, and management of KFS. Introduction Klinefelter syndrome (KFS), also known as XXY syndrome, refers to a group of chromosomal disorders in which at least one extra X chromosome is present in the normal male karyotype.
KFS is the most common aneuploidy syndrome, occurring in about 150 per 1,00,000 males . 1 It is also associated with male hypogonadism and infertility. Men with KFS are unable to produce testosterone 2 and are infertile. The various disorders associated with KFS are varicose veins, thrombosis, embolism, type 2 diabetes,…
