Klinefelter Syndrome
Klinefelter syndrome is a disorder that affects only males. Males normally have an X chromosome and a Y chromosome (XY). But males who have Klinefelter syndrome have an extra X chromosome (XXY), giving them a total of 47 instead of the normal 46 chromosomes.
Causes
Normally, males inherit one X chromosome from their mother and one Y chromosome from their father. But those who have Klinefelter syndrome inherit an extra X chromosome.
Klinefelter syndrome is typically caused by what is called nondisjunction. If a pair of sex chromosomes fails to separate during the formation of an egg (or sperm), this is referred to as nondisjunction. When that egg unites with a normal sperm to form an embryo, that embryo may end up with three copies of the sex chromosomes (XXY) instead of the normal two (XY). The extra chromosome is then copied in every cell of the baby's body.
Klinefelter syndrome is typically caused by what is called nondisjunction. If a pair of sex chromosomes fails to separate during the formation of an egg (or sperm), this is referred to as nondisjunction. When that egg unites with a normal sperm to form an embryo, that embryo may end up with three copies of the sex chromosomes (XXY) instead of the normal two (XY). The extra chromosome is then copied in every cell of the baby's body.
Incidence
The Klinefelter syndrome occurs at a rate of 1-in-500 to 1-in-1000 male births annually.
Symptoms
Klinefelter syndrome adversely affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone and is usually recognised when they are adolescence . Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, narrow shoulders, long arms and enlarged breast tissue. The effects of Klinefelter syndrome vary, and not everyone with it develops these signs and symptoms.
Living with the disease
While it was once believed that all boys with Klinefelter syndrome are mentally retarded, doctors now know that the disorder can exist without retardation. However, children with Klinefelter syndrome frequently have difficulty with language, including learning to speak, read, and write. Approximately 50% of males with Klinefelter syndrome are dyslexic.
Some people with Klinefelter syndrome have difficulty with social skills and tend to be more shy, anxious, or immature than their peers. They can also have poor judgment and do not handle stressful situations well. As a result, they often do not feel comfortable in large social gatherings. Some people with Klinefelter syndrome can also have anxiety, nervousness and/or depression.
As boys who have the klinefelter syndrome (XXY) males may experience some problems with language development. Some of these problems are learning to talk late, trouble using language to express their thoughts and needs, difficulty reading and trouble processing what they hear.
By adulthood, XXY males grow to look similar to other males who do not have the klinefelter syndrome. XXY males are often taller. XXY males have a higher chance of having health problems such as breast cancer, autoimmune disorders, vein disorders, osteoporosis and tooth decay. Most of these males are infertile as their bodies don’t produce a lot of sperm.
Although they have a disorder XXY males usually have jobs and successful careers just like other males. They do tend to avoid work that involves reading and writing. Normally when they are adults, they no longer have social difficulties. Instead, most of them live lives similar to those without the condition. They have normal health relationships, family and friends.
Some people with Klinefelter syndrome have difficulty with social skills and tend to be more shy, anxious, or immature than their peers. They can also have poor judgment and do not handle stressful situations well. As a result, they often do not feel comfortable in large social gatherings. Some people with Klinefelter syndrome can also have anxiety, nervousness and/or depression.
As boys who have the klinefelter syndrome (XXY) males may experience some problems with language development. Some of these problems are learning to talk late, trouble using language to express their thoughts and needs, difficulty reading and trouble processing what they hear.
By adulthood, XXY males grow to look similar to other males who do not have the klinefelter syndrome. XXY males are often taller. XXY males have a higher chance of having health problems such as breast cancer, autoimmune disorders, vein disorders, osteoporosis and tooth decay. Most of these males are infertile as their bodies don’t produce a lot of sperm.
Although they have a disorder XXY males usually have jobs and successful careers just like other males. They do tend to avoid work that involves reading and writing. Normally when they are adults, they no longer have social difficulties. Instead, most of them live lives similar to those without the condition. They have normal health relationships, family and friends.
Hope for the Future
Although there is no cure for the Klinefelter syndrome there are a few different things that can help improve the confidence and physical appearance of males who have Klinefelter syndrome
- Androgen Therapy : Hormones such as testosterone is used to bring out the normal changes of puberty. Hormone therapy is lifelong. These injections can promote increased energy levels, physical strength and facial hair growth.
- Counselling: It can help the male understand more about his condition and learn to accept the fact that he has Klinefelter syndrome. Counsellors can also help work out emotional issues.
- Body surgery: Surgery could help to remove some of the excess breast tissues and cause it to look like a normal breast for a man.
- Speech and behavioral therapy: Assistance provided to help improve speech impairments, academic difficulties and other psychosocial and behavioural problems.