Klinefelter syndrome

Klinefelter syndrome is a disorder that affects only males. Males normally have
an X chromosome and a Y chromosome (XY). But males who have Klinefelter
syndrome have an extra X chromosome (XXY), which means a total of 47 instead of
the normal 46 chromosomes.
The syndrome can affect different stages of physical, language and social
development. The most common symptom is infertility.
Males with Klinefelter syndrome have small testes which do not produce
enough male hormone ,testosterone before birth and during puberty. This lack of
testosterone means that during puberty, the normal male sexual characteristics do
not develop fully. There is reduced facial and pubic hair, and some breast tissue often
develops. The lack of testosterone is also responsible for other symptoms, including
infertility.
Some affected individuals also have genital differences including undescended
testes (cryptorchidism), the opening of the urethra on the underside of the penis
(hypospadias), or an unusually small penis (micropenis).
Older children and adults with Klinefelter syndrome tend to be taller than their
peers. Compared with unaffected men, adults with Klinefelter syndrome have an
increased risk of developing breast cancer and a chronic inflammatory disease called
systemic lupus erythematosus. Their chance of developing these disorders is
similar to that of women in the general population.