Klinefelter's syndrome (patient information)

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What is Klinefelter's syndrome?

Klinefelter's syndrome is the presence of an extra X chromosome in a male.

What are the symptoms of Klinefelter's syndrome?

The most common symptom is infertility. Other symptoms may include:

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

What causes Klinefelter's syndrome?

Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The two sex chromosomes determine if you become a boy or a girl. Females normally have two of the same sex chromosomes, written as XX. Males normally have an X and a Y chromosome (written as XY).

Klinefelter's syndrome is one of a group of sex chromosome problems. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X (written as XXY).

Klinefelter's syndrome is found in about 1 out of every 500 - 1,000 newborn males. Women who have pregnancies after age 35 are slightly more likely to have a boy with this syndrome than younger women.

How do I know I have Klinefelter's syndrome?

Adults may come to the doctor because of infertility. School-age children may be brought in to because of learning problems.

The following tests may be performed:

• Karyotyping
• Semen count
• Serum estradiol levels (a type of estrogen)
• Serum follicle stimulating hormone
• Serum luteinizing hormone
• Serum testosterone

Treatment options

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 father children. However, some men have been able to have children. An infertility specialist may be able to help.

Where to find medical care for Klinefelter's syndrome

Directions to Hospitals Treating Klinefelter's syndrome

What to expect (Outlook/Prognosis)

Most patients have a normal, productive life.

Possible complications

The syndrome increases the risk of:

• Attention-deficit hyperactivity disorder
• Autoimmune disorders such as lupus, rheumatoid arthritis, and Sjogren syndrome
• Breast cancer
• Depression
• Dyslexia
• Extragonadal germ cell tumor (a rare tumor)
• Learning disabilities, despite normal or high IQ
• Lung disease
• Osteoporosis
• Varicose veins

Enlarged teeth with a thinning surface (taurodontism) is very common in Klinefelter's syndrome. It can be diagnosed by dental x-rays.