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What is Klinefelter syndrome?

Klinefelter syndrome or Klinefelter's


syndrome (KS) also known as 47,XXY or XXY, is the set of
symptoms that result from two or more X chromosome in
males. 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's syndrome is a genetic condition that
only affects males.Affected males have an extra X chromosome.
Males with Klinefelter's syndrome have small testes which do not
produce enough of the male hormone testosterone before birth and
during puberty.
Klinefelter syndrome is a genetic disorder that
affects males. Klinefelter syndrome occurs when a boy is born with
one or more extra Xchromosomes. 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.

What causes Klinefelter syndrome?


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.

What are the symptoms?


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 penisdoes not reach adult size.
Their voices may not be as deep. They usually cannot father
children. But they can have a normal sex life.
Some boys with Klinefelter syndrome have language and learning
problems.

How is Klinefelter syndrome diagnosed?


Klinefelter syndrome usually is not diagnosed until
the time of puberty. At this point, the boy's testicles fail to grow
normally and you may start to notice other symptoms.

To find out if your son has Klinefelter syndrome, your doctor will ask
questions about his past health, do a physical exam, and order a
chromosome test called a karyotype.
In adult men, lab tests in addition to a karyotype may be done, such
as hormone tests or a semen analysis, if Klinefelter syndrome is
suspected.
If you are pregnant and at risk for having a child with Klinefelter
syndrome, tests may be done. Klinefelter syndrome can be detected
before birth (prenatally) through genetic tests on cells collected
fromamniocentesis or chorionic villus sampling (CVS). But this is not
routinely done.

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