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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.

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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:

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:

Most men with this syndrome are not able to get a woman pregnant. But, 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

Call for an appointment with 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.

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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.

Matsumoto AM, Bremmer WJ. Testicular disorders. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed. Philadelphia, PA: Elsevier; 2016: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.

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Review Date: 10/15/2018  

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

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