1. Physical Characteristics of Klinefelter Syndrome
Klinefelter syndrome is a genetic disorder that only affects males. It causes several distinctive physical characteristics in sufferers that can be used to identify the presence of the disorder. These characteristics arise from a lack of testosterone production during puberty. Consequently, they can be readily identified during this developmental stage. These characteristics include abnormally small testicles, enlarged breasts (gynecomastia), lack of hair growth on the face and body and underdeveloped muscles. Boys with Klinefelter syndrome are usually taller than other males in their family and have wider hips and longer legs. The lack of testosterone during puberty has the effect of feminizing a boy's body.
2. Behavioral and Psychological Symptoms
Besides the obvious physical characteristics caused by Klinefelter syndrome, there are also some behavioral and psychological symptoms that are used as indicators. Boys with Klinefelter syndrome may demonstrate aggressive behavior, poor impulse control and/or anxiety. Additionally, they may have problems interacting with peers socially because of shyness, immaturity or over-dependency. Learning challenges are also common symptoms including difficulty learning to talk, read, write and problem-solve. These symptoms are common for many other conditions, however. Proper testing is the only way to confirm Klinefelter syndrome.
3. Diagnostic Testing
Testing for Klinefelter syndrome can be done prenatally, in childhood or in adulthood. Prenatal tests for Klinefelter syndrome are not standard and are usually only done if there is a family history of the condition. A karyotype blood test is used to test both children and adults. A karyotype, or chromosome analysis, provides a picture the chromosomes in a cell to check for abnormalities. If Klinefelter syndrome is present, the karyotype will indicate an extra X chromosome.
4. Klinefelter Syndrome and Infertility
When Klinefelter syndrome is not diagnosed in childhood, it is often identified when infertility becomes an issue. Infertility is a common symptom of Klinefelter syndrome, and approximately 3 percent of all male infertility is caused by this disorder. Those who are not diagnosed until adulthood often have few of the other symptoms indicative of the condition or their symptoms are unnoticeable. Karyotype testing is commonly done when attempting to diagnose male infertility.
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