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 XXY males or males with XXY 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 eggs splits unevenly. But it can also occur when the genetic material in the sperm splits unevenly.
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 .
In adult men, lab tests in addition to a karotype 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 a boy 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.
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:
Other Places To Get Help
|American Association for Klinefelter Syndrome Information and Support (AAKSIS)|
|c/o Roberta Rappaport, 2945 West Farwell Avenue|
|Chicago, IL 60645-2925|
The American Association for Klinefelter Syndrome Information and Support (AAKSIS) is a national volunteer association with the mission of education, support, research, and understanding of 47 XXY and its variants, collectively known as Klinefelter syndrome.
|8401 Connecticut Avenue|
|Chevy Chase, MD 20815-5817|
The Hormone Foundation 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)|
|11 Keats Court|
|Coto de Caza, CA 92679|
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|
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 Institute of Child Health and Human Development|
|P.O. Box 3006|
|Rockville, MD 20847|
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.
Other Works Consulted
- 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 (2007). Klinefelter's syndrome (XXY seminiferous tubule dysgenesis) section of Testes. In DG Gardner, D Shoback, eds., Greenspan's Basic and Clinical Endocrinology, 8th ed., pp. 482–484. New York: McGraw-Hill.
- Styne DM, Grumbach MM (2008). Klinefelter's syndrome and its variants section of Puberty: Ontogeny, neuroendocrinology, physiology, and disorders. In HM Kronenberg et al, eds., Williams Textbook of Endocrinology, 11th ed., pp. 1051–1053. Philadelphia: Saunders Elsevier.
- Tsai A C-H, et al. (2011). Klinefelter syndrome (XXY) section of Genetics and dysmorphology. In WW Hay et al., eds., Current Diagnosis and Treatment: Pediatrics, 20th ed., p. 1039. New York: McGraw-Hill Medical.
|Primary Medical Reviewer||Susan C. Kim, MD - Pediatrics|
|Specialist Medical Reviewer||Stephen LaFranchi, MD - Pediatrics, Pediatric Endocrinology|
|Last Revised||February 7, 2011|
Last Revised: February 7, 2011
Author: Healthwise Staff
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