Klinefelter syndrome

By Mayo Clinic staff

Original Article: http://www.mayoclinic.com/health/klinefelter-syndrome/DS01057
Definition
Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of
the X chromosome. Klinefelter syndrome is one of the most common genetic conditions
affecting males.
Klinefelter syndrome adversely affects 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 effects of Klinefelter syndrome vary, and not everyone with it develops 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.
Symptoms
Many babies and boys with Klinefelter syndrome have few noticeable symptoms, and the
condition may go undiagnosed until adulthood. For others, the condition has a noticeable effect
on growth or appearance. Klinefelter syndrome may cause speech and learning problems in
some boys.
Signs and symptoms of Klinefelter syndrome vary by age:
Babies
Weak muscles
Slow motor development taking longer than average to sit up, crawl and walk
Delay in speaking
Quiet, docile personality
Problems at birth, such as testicles that haven't descended into the scrotum
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
Klinefelter Syndrome McC~~~

Page 1

Enlarged breast tissue (gynecomastia)

Weak bones
Low energy levels
Shyness
Difficulty expressing feelings or socializing
Problems with reading, writing, spelling or math
Attention problems

Men

Infertility
Small testicles and penis
Taller than average stature
Weak bones
Decreased facial and body hair
Enlarged breast tissue
Decreased sex drive or sexual problems

When to see a doctor

See a doctor to rule out Klinefelter syndrome or another health condition if you or your son
has:
Slow development during infancy or boyhood. If your son seems to be developing
more slowly than other boys are, see your son's doctor. Some variation in physical and
mental development is normal. But it's best to check with a doctor if you have any
concerns. Delays in growth and development can be the first sign of a number of
conditions that need treatment including Klinefelter syndrome. If your son does have
Klinefelter syndrome, early treatment, including speech therapy, can help prevent or
minimize problems.
Male infertility. If your partner hasn't gotten pregnant after a year of regular,
unprotected sex, see a doctor. Infertility is usually caused by something other than
Klinefelter syndrome, but many men aren't diagnosed with the condition until they
realize they're unable to father a child.
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 gender. 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
Klinefelter Syndrome McC~~~

Page 2

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 chromosome.
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.
Risk factors
Klinefelter syndrome stems from a random genetic event. The risk of a child being born with
Klinefelter syndrome isn't increased by anything a parent does or doesn't do. For women older
than age 35, the risk is higher but only slightly.
Complications
Complications of Klinefelter syndrome can include:
Increased risk of certain birth defects, including curved fifth fingers and cleft palate
Delayed puberty
Noticeable physical features, such as sparse facial and body hair, unusually long legs and
arms, lack of muscular development, and enlarged breast tissue
Learning disabilities, attention problems or social development issues
Infertility
Weak bones (osteoporosis)
Increased risk of varicose veins and other problems with blood vessels
Increased risk of breast cancer and cancers of the blood, bone marrow or lymph nodes
Increased risk of lung diseases, such as chronic bronchitis
Increased risk of autoimmune disorders, such as type 1 diabetes and lupus
Increased belly fat, which can lead to other health problems
Problems with sexual function
A number of complications caused by Klinefelter syndrome are related to low testosterone
(hypogonadism). Testosterone replacement therapy reduces the risk of certain health
problems, especially when therapy is started at the beginning of puberty.
Preparing for your appointment
A small percentage of males with Klinefelter syndrome are diagnosed before birth. This might
happen if a pregnant woman has a procedure to examine fetal cells drawn from the amniotic
fluid (amniocentesis) or placenta (chorionic villus sampling). Most women who have these
procedures are older than age 35 or have a family history of genetic conditions.
If you notice symptoms of Klinefelter syndrome in yourself or your son, see a doctor. Your
doctor will do a thorough physical examination and ask detailed questions about symptoms and
your (or your son's) health. Be prepared to discuss when you, or your son, reached certain
Klinefelter Syndrome McC~~~

Page 3

puberty milestones, such as the development of pubic and armpit hair, growth of the penis and
increased testicle size.
Take a few steps to make sure you make the best of the doctor visit:
Write down detailed notes about any symptoms.
Make a list of all medications, as well as any vitamins or supplements that you (or your
son) are taking.
Preparing a list of questions can help make the most of your appointment. You might want to
ask the following questions:
What tests are needed to confirm my (or my son's) diagnosis or see if the symptoms are
caused by something else?
What treatments are necessary?
What are the side effects and expected results of treatment?
Are there any brochures or other printed material that I can take with me? What
websites do you recommend?
In addition to the questions that you've prepared, don't hesitate to ask questions during your
appointment.
Tests and diagnosis
As part of a physical examination, your doctor will likely examine your (or your son's) genital
area and chest and may do tests to check reflexes and mental functioning.
The main tests used to diagnose Klinefelter syndrome are:
Hormone testing. Blood or urine samples can reveal abnormal hormone levels that are
a sign of Klinefelter syndrome. The doctor may take samples to be evaluated in the lab.
Chromosome analysis. Also called karyotype analysis, this test is used to confirm a
diagnosis of Klinefelter syndrome. It's usually done by taking a blood sample for
laboratory examination to check the shape and number of chromosomes.
Treatments and drugs
If you or your child is diagnosed with Klinefelter syndrome, early treatment can help minimize
problems. You might work with a team of health care providers, including a doctor who
specializes in diagnosing and treating disorders involving the body's glands and hormones
(endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a
reproductive medicine or infertility specialist, and a counselor or psychologist.
Although there's no way to repair the sex chromosome changes due to Klinefelter syndrome,
treatments can help minimize its effects. The earlier a diagnosis is made and treatment is
started, the greater the benefits. But it's never too late to get help.
Treatment for Klinefelter syndrome may include:

Klinefelter Syndrome McC~~~

Page 4

Testosterone replacement therapy. Males with Klinefelter syndrome don't produce

enough of the male hormone testosterone, and this can have lifelong effects. Starting at
the time of the usual onset of puberty, testosterone replacement can help treat or
prevent a number of problems. Testosterone may be given as injections or with a gel or
patch on the skin. Testosterone replacement therapy allows a boy to undergo the body
changes that normally occur at puberty, such as developing a deeper voice, growing
facial and body hair, and increasing muscle mass and penis size. Testosterone therapy
also can help reduce growth of breast tissue, improve bone density and reduce the risk
of fractures. It will not result in testicle enlargement or improve infertility.
Breast tissue removal. In males who develop enlarged breasts (gynecomastia), excess
breast tissue can be removed by a plastic surgeon, leaving a normal-looking chest.
Speech and physical therapy. These treatments can help boys with Klinefelter
syndrome overcome problems with speech, language and muscle weakness.
Educational support. Some boys with Klinefelter syndrome have trouble learning and
can benefit from extra assistance. Talk to your child's teacher, school counselor or
school nurse about what kind of support might help.
Fertility treatment. Most men with Klinefelter syndrome are unable to father children,
because no sperm are produced in the testicles. Some men with Klinefelter syndrome
may have some minimal sperm production. One option that may benefit these men is a
procedure called intracytoplasmic sperm injection (ICSI), in which sperm is removed
from the testicle with a biopsy needle and injected directly into the egg. Other
alternatives for having children include adoption and artificial insemination with donor
sperm.
Psychological counseling. Having Klinefelter syndrome can be a challenge, especially
during puberty and young adulthood. For men with the condition, coping with infertility
can be difficult. A family therapist, counselor or psychologist can help you work through
emotional issues.

Coping and support

With treatment and support, men with Klinefelter syndrome can expect to lead a normal life.
The condition may cause minor symptoms that are hardly noticeable. Educational and social
support can make a positive difference.
Boys with Klinefelter syndrome
To help your son cope with Klinefelter syndrome and promote healthy mental, physical,
emotional and social development:
Monitor your son's development carefully and seek help for problems you notice, such
as trouble with speech or language.
Klinefelter Syndrome McC~~~

Page 5

Encourage participation in sports and physical activities that will help build muscle
strength and motor skills.
Encourage your son to be independent. Be supportive but not overly protective, and
provide a home environment with lots of positive feedback and encouragement.
Cooperate closely with your son's school. Teachers, school counselors and
administrators who understand your son's needs can make a big difference.
Learn what support is available, such as special education services.
Connect with other parents. Klinefelter syndrome is a common condition, and you
and your son aren't alone. A number of Internet resources and support groups may
help answer your questions and ease concerns.

Men with Klinefelter syndrome

Men with Klinefelter syndrome can benefit from several self-care measures:
Work closely with your doctor. Appropriate treatment can help you maintain your
physical and mental health and prevent problems later in life, such as osteoporosis.
Investigate your options for planning a family. You and your partner may want to talk to
a doctor or other health professional about your options.
Talk with others who have the condition. There are a number of resources that provide
information about Klinefelter syndrome and perspectives of other men and their
partners who cope with the condition. Many men find it also helpful to join a support
group.
DS01057 Oct. 28, 2010
1998-2012 Mayo Foundation for Medical Education and Research (MFMER). All rights
reserved. A single copy of these materials may be reprinted for noncommercial personal use
only. "Mayo," "Mayo Clinic," "MayoClinic.com," "EmbodyHealth," "Enhance your life," and the
triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and
Research.
http://www.mayoclinic.com/health/klinefelter-syndrome/DS01057/METHOD=print

Klinefelter Syndrome McC~~~

Page 6