Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting males, and it often isn't diagnosed until adulthood.
Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same signs and symptoms.
Most men with Klinefelter syndrome produce little or no sperm, but assisted reproductive procedures may make it possible for some men with Klinefelter syndrome to father children.
Source: http://www.mayoclinic.com
Signs and symptoms of Klinefelter syndrome vary widely among males with the disorder. Many boys with Klinefelter syndrome have few noticeable signs, and the condition may go undiagnosed until adulthood. For others, the condition has a noticeable effect on growth or appearance.
Signs and symptoms of Klinefelter syndrome also vary by age.
Signs and symptoms may include:
Signs and symptoms may include:
See a doctor if you or your son has:
Source: http://www.mayoclinic.com
Klinefelter syndrome occurs as a result of a random error that causes a male to be born with an extra sex chromosome. It isn't an inherited condition.
Humans have 46 chromosomes, including two sex chromosomes that determine a person's sex. Females have two X sex chromosomes (XX). Males have an X and a Y sex chromosome (XY).
Klinefelter syndrome can be caused by:
Extra copies of genes on the X chromosome can interfere with male sexual development and fertility.
Source: http://www.mayoclinic.com
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:
A small percentage of males with Klinefelter syndrome are diagnosed before birth. This might be identified after a pregnant woman has 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.
Source: http://www.mayoclinic.com
Klinefelter syndrome may increase the risk of:
A number of complications caused by Klinefelter syndrome are related to low testosterone (hypogonadism). Testosterone replacement therapy reduces the risk of certain health problems, especially when therapy is started at the beginning of puberty.
Source: http://www.mayoclinic.com
Treatment, health education and social support can greatly benefit individuals with Klinefelter syndrome.
If you have a son with Klinefelter syndrome, you can help promote healthy mental, physical, emotional and social development.
If you have Klinefelter syndrome, you may benefit from these self-care measures:
Source: http://www.mayoclinic.com
Klinefelter syndrome stems from a random genetic event. The risk of Klinefelter syndrome isn't increased by anything a parent does or doesn't do. For older mothers, the risk is higher but only slightly.
Source: http://www.mayoclinic.com
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