Health Encyclopedia

 

 

Klinefelter Syndrome

Topic Overview

What is Klinefelter syndrome?

Klinefelter syndrome is a genetic disorder that affects males. Klinefelter syndrome 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. Males who have Klinefelter syndrome may be described as X-Y males or males with X-Y syndrome. 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 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.

Some boys with Klinefelter syndrome have language and learning problems.

See a picture of a male with Klinefelter syndrome.

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.

Klinefelter syndrome can be detected before birth (prenatally) through genetic tests on cells collected from amniocentesis or chorionic villus sampling (CVS). But this is not routinely done.

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.

How is it treated?

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 help infertility.

Speech therapy and educational support can help boys who have language or learning problems.

If a man with Klinefelter wants to have children, he may be able to have his sperm collected through testicular sperm extraction (TEST). During TEST, sperm are obtained using a thin needle inserted into the testicle or through a small cut made in the testicle. Normal sperm are identified and then used for in vitro fertilization.

How can you help your son?

If your son has been diagnosed with Klinefelter syndrome:

  • Recognize your feelings. It is natural for parents to feel that they have done something to cause Klinefelter syndrome. But this condition is a genetic disorder and was beyond anyone's control. Allow yourself time to deal with your feelings, and talk with your son's doctor about your concerns.
  • Educate yourself about the disorder. The common problem for parents is fear of the unknown. Educating yourself will help you learn how to help your son.
  • Support your son. Provide education appropriate for his age about Klinefelter syndrome and give him the emotional support and encouragement he needs. Remind him that most men who have Klinefelter syndrome go through life with few problems.
  • Be actively involved in your son's care. Talk with your doctor about his treatment. If counseling for behavioral problems is needed, or if your son has difficulty reading or has poor verbal skills, get help from qualified professionals who have experience working with boys who have Klinefelter syndrome.
  • Encourage your son to take part in activities to improve his physical motor skills, such as karate, soccer, basketball, baseball, or swimming. For more information, see the topic Physical Activity for Children and Teens.
  • Work with your son's teachers, principal, and school administrators.
    • Contact his teachers on a regular basis to compare how he is doing at home and at school.
    • When appropriate, let your son be present for talks with his teachers. Use brief notes, telephone calls, and meetings to identify and solve problems.
    • Provide articles and pamphlets to your son's teachers and school principal about Klinefelter syndrome.
  • Encourage your son's independence. Although it is important to be supportive, realize that watching over your son too much can send the message that you think he is not able to do things on his own.

Frequently Asked Questions

Learning about Klinefelter syndrome:

Ongoing concerns:

Other Places To Get Help

Organizations

Hormone Health Network
8401 Connecticut Avenue
Suite 900
Chevy Chase, MD  20815-5817
Phone: 1-800-HORMONE (1-800-467-6663)
Web Address: www.hormone.org
 

The Hormone Health Network is a nonprofit organization started by the Endocrine Society. The organization promotes the prevention, treatment, and cure of hormone-related conditions through public outreach and education.



Klinefelter Syndrome and Associates (KS&A)
P.O. Box 872
Pine, CO 80470-0872
Phone: 1-888-XXY-WHAT (1-888-999-9428)
Phone: (303) 400-9040
Fax: (303) 838-0753
Web Address: www.genetic.org
 

KS&A is focused on Knowledge, Support, and Action. It's a nonprofit education and support organization for people who have Klinefelter syndrome or other conditions caused by extra X and/or Y chromosomes.



March of Dimes
1275 Mamaroneck Avenue
White Plains, NY  10605
Phone: (914) 997-4488
Web Address: www.marchofdimes.com
 

The March of Dimes tries to improve the health of babies by preventing birth defects, premature birth, and early death. March of Dimes supports research, community services, education, and advocacy to save babies' lives. The organization's website has information on premature birth, birth defects, birth defects testing, pregnancy, and prenatal care.



National Human Genome Research Institute, National Institutes of Health (NIH)
NIH Building 31, Room 4B09, 31 Center Drive
MSC 2152, 9000 Rockville Pike
Bethesda, MD 20892-2152  
Phone: Phone: (301) 402-0911
Fax: (301) 402-2218
Web Address: www.genome.gov
 

The National Human Genome Research Institute (NHGRI) supports genetic and genomic research, investigation into the ethical, legal, and social implications surrounding genetics research, and educational outreach activities. (Genome refers to a complete gene sequence in a organism.) NHGRI also supports the training of investigators and provides genome information, including fact sheets and school materials, to the public and to health professionals.



National Institute of Child Health and Human Development
P.O. Box 3006
Rockville, MD  20847
Phone: 1-800-370-2943
Fax: 1-866-760-5947 toll-free
TDD: 1-888-320-6942
Email: NICHDInformationResourceCenter@mail.nih.gov
Web Address: www.nichd.nih.gov
 

The National Institute of Child Health and Human Development (NICHD) is part of the U.S. National Institutes of Health. The NICHD conducts and supports research related to the health of children, adults, and families. NICHD has information on its Web site about many health topics. And you can send specific requests to information specialists.



References

Other Works Consulted

  • Achermann JC, Hughes IA (2011). Disorders of Sex Development. In S Melmed et al., eds., Williams Textbook of Endocrinology, 12th ed., pp. 868–934. Philadelphia: Saunders.
  • Bojesen A, et al. (2003). Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study. Journal of Clinical Endocrinology and Metabolism, 88(2): 622–626.
  • Braunstein GD (2011). Testes. In DG Gardner, D Shoback, eds., Greenspan's Basic and Clinical Endocrinology, 9th ed., pp. 395–422. New York: McGraw-Hill Medical.
  • Tsai A C-H, et al. (2012). Genetics and dysmorphology. In WW Hay Jr et al., eds., Current Diagnosis and Treatment: Pediatrics, 21st ed., pp. 1088–1122. New York: McGraw-Hill Medical.

Credits

By Healthwise Staff
Primary Medical Reviewer John Pope, MD - Pediatrics
Specialist Medical Reviewer Stephen LaFranchi, MD - Pediatrics, Pediatric Endocrinology
Last Revised January 17, 2013

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

© 1995-2013 Healthwise, Incorporated. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.