The Basics:
Klinefelter's Syndrome (also known as 47,XXY and XXY Syndrome) is a genetic disorder in males who have an extra X chromosome in their cells. Individuals afflicted with this disorder normally have small testicles and do not make as much testosterone as normal males. Also caused by the lack of testosterone is infertility, less facial and body hair, and less muscular build. Males with this disorder are also known to have gynecomastia, or enlarged breasts. They also may have a pushed back hairline, long legs, long arms, a short torso, and wide hips. Children with Klinefelter's tend to have delayed speech development and learning disabilities. As babies, these children might not sit up, crawl, or walk as early as others. The picture on the left displays a male with Klinefelter's Syndrome at age 19.
How do you get it?
Klinefelter's Syndrome is caused by nondisjunction during meiosis in one of the parents (making it a chromosomal condition). It is a trisomy, displayed in the picture to the left. Homologous chromosomes don't separate and produce a sperm with an X and Y chromosome, so when combined with the egg (X), the resulting offspring is XXY. A man with Klinefelter's is most likely to be sterile, so he would be unable to pass the disease on to another generation. 95-99% of men with Klinefelter's Syndrome are unable to have children. In some cases, pregnancy was achieved by surgically removing sperm in order to fertilize an egg.
History
The syndrome is named after Dr. Harry Klinefelter (picture at left), who worked with his coworkers and Fuller Albright at Massachusetts General Hospital in Boston to discover the disease. In 1942 they created a report on 9 men with the symptoms of Klinefelter's Syndrome. In the 1950's it was discovered that men with this syndrome had an extra X-chromosome. As the field of genetics was broadened, so was research on Klinefelter's.
The Facts
Klinefelter's syndrome is found in about 1 in 500 or 1 in 1,000 male births; it is a common genetic abnormality among males. Although it is common, most afflicted people do not find out that they have it until they hit puberty or try to have children. It is diagnosed by a doctor or genetic counselor through blood samples where they analyze the patient's chromosomes. This is called a "karyotype". The life expectancy of someone with this disease is fairly normal, although a Danish study showed that males with this disease died about 2.1 years earlier than normal males. Most can lead normal, productive lives and there are various ways to help them cope with their disease. Some examples could be breast reduction surgery, genetic counseling, and testosterone injections. So far, there is no treatment for this syndrome. The only way it could be treated was if a way to change someone's chromosomal make-up was invented, but currently it is unlikely that a cure will be found any time soon.
Klinefelter's Syndrome is also known as:
- 47,XXY
-XXY Syndrome
-XXY Trisomy
-XXY Syndrome
-XXY Trisomy
Personal
Growing up with Klinefelter's can be very frustrating for the child and the parents. These children usually have language and learning problems and speech counseling could be very helpful to them. They may also be anxious or depressed because their disease separates them from the rest of the crowd. Parents should encourage their children to take part in sports to improve motor skills and muscle development. As their lives go on, males with Klinfelter's will most likely start to look and feel more like normal people and can go on to lead healthy sex lives, social lives, and get a job. This disease does not limit a person's life, other than not being able to naturally father children.
Support Organizations
These are some organizations that may help you and your child cope with Klinefelter's.
http://www.aaksis.org/
http://klinefeltersyndrome.org/KEST.htm
http://www.geneticalliance.org/organization/klinefelters-syndrome-association
http://www.aaksis.org/
http://klinefeltersyndrome.org/KEST.htm
http://www.geneticalliance.org/organization/klinefelters-syndrome-association
What is a genetic counselor?
A genetic counselor is a health professional whose job is to consult with families about genetic disorders that one or more members may have. They provide information to support them and help make decisions based on genetic information. They may also recommend organizations or services to help the families or individuals. In their field, genetic counselors may work among other health care professionals such as doctors or nurses. In order to become a genetic counselor, one must have a master's degree in Genetic Counseling. The duties of a genetic counselor include looking at patient history, providing genetic testing, counseling patients for their disease, calculating genetic risk factors, and educating families about genetic diseases. Genetic counselors earn about $49,646-$65,168 a year.