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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:

• 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:

• Karyotyping (checks the chromosomes)
• Semen count

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

• Estradiol, a type of estrogen
• Follicle stimulating hormone
• Luteinizing hormone
• Testosterone

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:

• Association for X and Y Chromosome Variations -- genetic.org
• US National Library of Medicine, MedlinePlus -- medlineplus.gov/klinefeltersyndrome.html

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:

• Attention deficient hyperactivity disorder (ADHD)
• Autoimmune disorders, such as lupus, rheumatoid arthritis, and Sjögren syndrome
• Breast cancer in men
• Depression
• Learning disabilities, including dyslexia, which affects reading
• A rare type of tumor called an extragonadal germ cell tumor
• Lung disease
• Osteoporosis
• Varicose veins

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.

Related Information

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.

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.

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