Kleinfelter`s Syndrome

Your doctor will likely do a thorough physical exam and ask detailed questions about symptoms and health. This may include examining the genital area and chest, performing tests to check reflexes, and assessing development and functioning.

The main tests used to diagnose Klinefelter syndrome are:

Hormone testing. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome.

Chromosome analysis. Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. A blood sample is sent to the lab to check the shape and number of chromosomes.

A small percentage of males with Klinefelter syndrome are diagnosed before birth. The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta for another reason — such as being older than age 35 or having a family history of genetic conditions.

Klinefelter syndrome may be suspected during a noninvasive prenatal screening blood test. To confirm the diagnosis, further invasive prenatal testing such as amniocentesis is required.

If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist.

Although there's no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effects. The earlier a diagnosis is made and treatment is started, the greater the benefits. But it's never too late to get help.

Treatment for Klinefelter syndrome is based on signs and symptoms and may include:

Testosterone replacement therapy. Starting at the time of the usual onset of puberty, testosterone replacement therapy can be given to help stimulate changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and sexual desire (libido). Testosterone replacement therapy can also improve bone density and reduce the risk of fractures, and it may improve mood and behavior. It will not improve infertility.

Breast tissue removal. In males who develop enlarged breasts, excess breast tissue can be removed by a plastic surgeon, leaving a more typical-looking chest.

Speech and physical therapy. These treatments can help boys with Klinefelter syndrome who have problems with speech, language and muscle weakness.

Educational evaluation and support. Some boys with Klinefelter syndrome have trouble learning and socializing and can benefit from extra assistance. Talk to your child's teacher, school counselor or school nurse about what kind of support might help.

Fertility treatment. Most men with Klinefelter syndrome are typically unable to father children because few or no sperm are produced in the testicles. For some men with minimal sperm production, a procedure called intracytoplasmic sperm injection (ICSI) may help. During ICSI, sperm is removed from the testicle with a biopsy needle and injected directly into the egg.

Psychological counseling. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A family therapist, counselor or psychologist can help work through the emotional issues.