BACK
TO
TOP
Browse A-Z
Spanish Version
 
E-mail Form
Email Results

 
 
Print-Friendly
Bookmarks
bookmarks-menu

Klinefelter syndrome

47 X-X-Y syndrome; XXY syndrome; XXY trisomy; 47,XXY/46,XY; Mosaic syndrome; Poly-X Klinefelter syndrome

Klinefelter syndrome is a genetic condition that occurs in males when they have an extra X chromosome.

Causes

Most people have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The 2 sex chromosomes (X and Y) determine if you become a boy or a girl. Girls normally have 2 X chromosomes. Boys normally have 1 X and 1 Y chromosome.

Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. This is written as XXY.

Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women.

Symptoms

Infertility is the most common symptom of Klinefelter syndrome. 

Symptoms may include any of the following:

  • Abnormal body proportions (long legs, short trunk, shoulder equal to hip size)
  • Abnormally large breasts (gynecomastia)
  • Infertility
  • Sexual problems
  • Less than normal amount of pubic, armpit, and facial hair
  • Small, firm testicles
  • Tall height
  • Small penis size

Exams and Tests

Klinefelter syndrome may first be diagnosed when a man comes to the health care provider because of infertility. The following tests may be performed:

Blood tests will be done to check hormone levels, including:

Treatment

Testosterone therapy may be prescribed. This can help:

  • Grow body hair
  • Improve appearance of muscles
  • Improve concentration
  • Improve mood and self esteem
  • Increase energy and sex drive
  • Increase strength

Most men with this syndrome are not able to get a woman pregnant. An infertility specialist may be able to help. Seeing a doctor called an endocrinologist may also be helpful.

Support Groups

These sources can provide more information on Klinefelter syndrome:

Possible Complications

Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. This is called taurodontism. This can be seen on dental x-rays.

Klinefelter syndrome also increases the risk of:

When to Contact a Medical Professional

Contact your provider if your son does not develop secondary sexual characteristics at puberty. This includes facial hair growth and a deepening of the voice.

A genetics counselor can provide information about this condition and direct you to support groups in your area.

Open References

References

Allan CA, McLachlan RI. Androgen deficiency disorders. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 139.

Jones KL, Jones MC, Campo MD. Recognizable patterns of malformation. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 1.

Matsumoto AM, Anawalt BD, Testicular disorders. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 19.

Nussbaum RL, McInnes RR, Willard HF. The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 6.

  • Karyotyping

    Karyotyping - illustration

    Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. The test can be performed on a sample of blood, bone marrow, amniotic fluid, or placental tissue.

    Karyotyping

    illustration

  • Karyotyping

    Karyotyping - illustration

    Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease. The test can be performed on a sample of blood, bone marrow, amniotic fluid, or placental tissue.

    Karyotyping

    illustration

 

Review Date: 10/13/2022

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
© 1997- adam.com All rights reserved.

 
 
 

 

 

A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Content is best viewed in IE9 or above, Firefox and Google Chrome browser.