 is a genetic disorder that affects males

 occurs when a boy is born with one or

more extra X chromosomes. Most males
have one Y and one X chromosome.
Having extra X chromosomes can cause
a male to have some physical traits
unusual for males.
 Many men with an extra X chromosome
are not aware that they have it, and
they lead normal lives. Klinefelter
syndrome occurs in about 1 out of 1,000
males.
 The presence of an extra X chromosome
in males most often occurs when the
genetic material in the egg splits
unevenly. But it can also occur when the
genetic material in the sperm splits
unevenly. Even though Klinefelter
syndrome is a genetic disorder, it is not
passed down through families. So,
parents who have a child with Klinefelter
syndrome are not any more likely than
other couples to have another child with
the condition.
 Many men who have Klinefelter syndrome do
not have obvious symptoms. Others have
sparse body hair, enlarged breasts, and wide
hips. In almost all men the testicles remain
small. In some men the penis does not reach
adult size. Their voices may not be as deep.
They usually cannot father children. But they
can have a normal sex life.
 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.
 Children with Klinefelter syndrome may have learning
disabilities and delayed speech and language
development. They tend to be quiet, sensitive, and
unassertive, but personality characteristics vary
among affected individuals.
 Some boys with Klinefelter syndrome have language
and learning problems. Affected individuals typically
have small testes that do not produce as much
testosterone as usual. Testosterone is the hormone
that directs male sexual development before birth
and during puberty. A shortage of testosterone can
lead to delayed or incomplete puberty, breast
enlargement (gynecomastia), reduced facial and
body hair, and an inability to have biological children
(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).
 Klinefelter syndrome affects 1 in 500 to
1,000 newborn males. Most variants of
Klinefelter syndrome are much rarer,
occurring in 1 in 50,000 or fewer
newborns.
 Researchers suspect that Klinefelter
syndrome is underdiagnosed because
the condition may not be identified in
people with mild signs and symptoms.
Additionally, the features of the
condition vary and overlap significantly
with those of other conditions
 In 1942, Dr. Harry Klinefelter and his
coworkers first described the
combination of features that has come
to be recognized as Klinefelter
Syndrome. By the late 1950's, researchers
discovered that men with this group of
symptoms had an extra sex
chromosome, XXY instead of the usual
male arrangement of XY
 Klinefelter syndrome and its variants are not
inherited; these chromosomal changes
usually occur as random events during the
formation of reproductive cells (eggs and
sperm) in a parent. An error in cell division
called nondisjunction results in a
reproductive cell with an abnormal number
of chromosomes. For example, an egg or
sperm cell may gain one or more extra
copies of the X chromosome as a result of
nondisjunction. If one of these atypical
reproductive cells contributes to the
genetic makeup of a child, the child will
have one or more extra X chromosomes in
each of the body's cells.
 Males with Klinefelter syndrome can be
given testosterone, a hormone needed
for sexual development. If treatment is
started around the age of puberty, it
can help boys have more normal body
development.
 Testosterone is given by injection or
through a skin patch or gel. The
treatment usually continues throughout a
man's life but does not helpinfertility.
1-2. Define Klinefelter Syndrome.
3-5. Give at least three symptoms of
Klinefelter Syndrome.
6. Who discovered Klinefelter Syndrome?
7. How can we treat Klinefelter
Syndrome?
8-9. Can Klinefelter be inherited? Explain.
10. What causes Klinefelter Syndrome?