There are many variant forms in Klinefelter's syndrome which is characterized by azoospermia, gynecomastia, a variable degree of enuchoidism, elevated urinary gonadotropins, atrophic testis and hyalinization of the seminiferous tubules. Among these, 48XXXY from is known as rare variants of Klinefelter's syndrome which had been reported about 50 cases. 48 XXXY Klinefelter's syndrome is composed of more severe physical abnormality and more multiple symptom and signs than classic Klinefelter's syndrome. We have reported a case of 48 XXXY Klinefelter's syndrome associated with ophthalmic problems and mild mental retardation in 20 year old Korean male.
Azoospermia ; Gonadotropins ; Gynecomastia ; Humans ; Hyalin ; Intellectual Disability ; Klinefelter Syndrome* ; Male ; Seminiferous Tubules ; Testis ; Young Adult