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Diseases and Conditions

Klinefelter syndrome
Definition
By Mayo Clinic Staf

Klinefelter syndrome is a genetic condition that results when a boy is born with an
extra copy of the X chromosome. Klinefelter syndrome is a common genetic
condition afecting males.
Klinefelter syndrome adversely afects testicular growth, and this can result in
smaller than normal testicles. This can lead to lower production of the sex
hormone testosterone. Klinefelter syndrome may also cause reduced muscle
mass, reduced body and facial hair, and enlarged breast tissue. The efects of
Klinefelter syndrome vary, and not everyone with it develops these signs and
symptoms.
Klinefelter syndrome often isn't diagnosed until adulthood. Most men with
Klinefelter syndrome produce little or no sperm. But assisted reproductive
procedures may make it possible for some men with Klinefelter syndrome to
father children

Causes
Klinefelter syndrome occurs as a result of a random error that causes a male to
be born with an extra sex chromosome. Of the 46 human chromosomes, the two
sex chromosomes determine a person's sex. In females, both sex chromosomes
are X (written as XX). Males have an X and a Y sex chromosome (XY).
Most often, Klinefelter syndrome occurs because of one extra copy of the X
chromosome in each cell (XXY). Extra copies of genes on the X chromosome
can interfere with male sexual development and fertility.
Some males with Klinefelter syndrome have the extra X chromosome only in
some of their cells (mosaic Klinefelter syndrome). Rarely, a more severe form of

such as testicles that haven't descended into the scrotum Boys and teenagers  Taller than average stature  Longer legs. Rather. Klinefelter syndrome may also cause speech and learning problems in some boys. shorter torso and broader hips compared with other boys  Absent. crawl and walk  Delay in speaking  Quiet. Klinefelter syndrome isn't an inherited condition. and the condition may go undiagnosed until adulthood. delayed or incomplete puberty  After puberty. the additional sex chromosome results from a random error during the formation of the egg or sperm or after conception SymptomsMany boys with Klinefelter syndrome have few noticeable symptoms. For others. less muscular bodies and less facial and body hair compared with other teens . Signs and symptoms of Klinefelter syndrome vary by age and may include: Babies Weak muscles  Slow motor development — taking longer than average to sit up. docile personality  Problems at birth. the condition has a noticeable efect on growth or appearance.Klinefelter can occur if a male has more than one extra copy of the X chromosome.

firm testicles  Small penis  Enlarged breast tissue (gynecomastia)  Weak bones  Low energy levels  Shyness  Difficulty expressing feelings or socializing  Problems with reading. spelling or math  Attention problem . writing. Small.