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Klinefelter Syndrome

Klinefelter syndrome (KS) is a disorder that occurs in some men who have more than one X chromosome (XXY). Virtually every cell in the body contains chromosomes, which carry the genes that determine many of our physical, intellectual, and emotional characteristics.

Males usually inherit a single X chromosome from their mother and a single Y chromosome from their father. Males with KS get at least one extra X chromosome from either their mother or their father. In most cases there is only one extra chromosome.

The extra X chromosome is caused by a biological accident. Normally, an egg has one X chromosome and a sperm has one X or one Y chromosome. Occasionally, an egg may end up with two X chromosomes or a sperm may have both an X and a Y chromosome. When these abnormal eggs are fertilized by a normal sperm, or the abnormal sperm fertilizes a normal egg, the result is a male with two X chromosomes and one Y chromosome (XXY).

Risk Factors:
A risk factor is something that increases your chance of getting a disease or condition. Women over age 35 have a slightly increased chance of having a child with KS. There are no other known risk factors for this disorder.

Although the chromosome variation XXY occurs in approximately 1 out of 1,000 live male births, many men with it do not develop KS.

When KS does develop, it usually goes undetected until puberty and sometimes much later. It may present during fetal development as an unexpected finding on an amniocentesis, in childhood as learning problems, in adolescence as excessive breast development, or in adult life as infertility concerns. Babies born with KS often have a smaller birth weight, and slower muscle and motor development. Characteristics may include:

  • Tallness with extra long arms and legs
  • Abnormal body proportions (long legs, short trunk)
  • Enlarged breasts
  • Lack of facial and body hair
  • Small firm testes
  • Small penis
  • Lack of ability to produce sperm
  • Diminished sex drive
  • Sexual dysfunction
  • Learning disabilities
  • Personality impairment

The most common findings in males with Klinefelter Syndrome are sterility, breast development, incomplete masculine body, and social and/or school learning problems.

Although their IQ is normal to borderline, most people with KS also have problems with speech and language. They often learn to speak later than other children do. They may also have a hard time learning to read and write. Eventually they learn to speak normally but continue to have some difficulty with language throughout their lives. If these difficulties are not treated, they can lead to social and/or school learning problems.

Individuals with KS also have an increased risk of:

  • Diabetes
  • Breast cancer
  • Lung cancer
  • Cardiovascular disease
  • Lung disease
  • Osteoporosis
Diagnosis of the XXY chromosome variation is made with a test called a karyotype, which examines all 23 pairs of chromosomes. In the case of KS, there are usually 47 chromosomes rather than the normal 46.

Many men with XXY live their whole lives without knowing they have an extra chromosome. If they do get diagnosed it is most likely at one of the following times:

  • Before birth, if amniocentesis or chorionic villus sampling (CVS) is done. These tests may be done if there is a family history of genetic problems, the pregnant woman is over age 35, or there are other medical concerns.
  • Babies or toddlers with undescended testicles or a very small penis.
  • Early childhood, when a boy has trouble learning to talk, read, and write.
  • Teenage years, if the breasts grow more than usual and puberty fails to develop normally in other ways.
  • Adulthood, during testing for infertility.
Treatment of KS includes:

The main treatment is testosterone. When boys with KS are 10-12 years old, their hormone levels are checked yearly. If their testosterone levels are low, then treatment with testosterone may be very helpful. Men diagnosed in adulthood may also benefit from taking testosterone. However, testosterone cannot reverse infertility.

Testosterone is most often given through regular shots in the form of depotestosterone. The benefits of this treatment include:

  • Increased strength
  • More muscular, male appearance
  • Growth of facial and body hair
  • Better self-esteem
  • Modulation of mood
  • Increased energy
  • Increased ability to concentrate
  • Greater sex drive
Speech and Language Therapy
Treatment of speech and language difficulties should begin in early childhood to avoid social and school learning problems. Treatment may involve:
  • Speech therapy
  • Special education services
  • Extra support and help with learning from parents and teachers
  • Social skills training and psychological counseling to cope with any negative effects of the speech and language problems
Currently, there are no known ways of preventing KS.
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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