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Diseases and Conditions

Klinefelter syndrome
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
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

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

Klinefelter can occur if a male has more than one extra copy of the X
Klinefelter syndrome isn't an inherited condition. Rather, 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, and the condition may go undiagnosed until adulthood. For others,
the condition has a noticeable efect on growth or appearance. Klinefelter
syndrome may also cause speech and learning problems in some boys.
Signs and symptoms of Klinefelter syndrome vary by age and may include:

Weak muscles

Slow motor development taking longer than average to sit up, crawl and

Delay in speaking

Quiet, docile personality

Problems at birth, such as testicles that haven't descended into the


Boys and teenagers

Taller than average stature

Longer legs, shorter torso and broader hips compared with other boys

Absent, delayed or incomplete puberty

After puberty, less muscular bodies and less facial and body hair
compared with other teens

Small, firm testicles

Small penis

Enlarged breast tissue (gynecomastia)

Weak bones

Low energy levels


Difficulty expressing feelings or socializing

Problems with reading, writing, spelling or math

Attention problem