What is the karyotype that you expect in chromosomal studies in a young male with hypogonadism and infeility and suspected Klinefelter syndrome?
Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism and infeility. It is defined classically by a 47XXY karyotype with variants that demonstrate additional X and Y chromosomes. The syndrome is characterized by hypogonadism (small testes, azoospermia, oligospermia), gynecomastia in late pubey, psychosocial problems, hyalinization and fibrosis of the seminiferous tubules, and elevated urinary gonadotropin levels.
47XXY
45X0
46XXY
45XXX