Klinefelter's syndrome with hypospadias and bilateral cryptorchidism.

A 3-year-old boy was found to have abnormality of the external genitalia at birth. Physical examination revealed hypospadias penis and bilateral cryptorchidism. Chromosomal analysis of peripheral blood showed the karyotype of 47,XXY, and the diagnosis of Klinefelter's syndrome associated with hypospadias and cryptorchidism was made. Klinefelter's syndrome is rare in infancy.