Klinefelter Syndrome

By: Diana Aguilar

What is Klinefelter Syndrome?

Klinefelter syndrome is a condition that affects male both physically and their ability to learn. The condition causes males to have small testes that produce a unusual small amount of testosterone. Testosterone is a type of hormone that develop the physical features that are typical of males.

Symptoms of Klinefelter Syndrome

Males with Klinefelter look normal after birth and have normal male genitalia. Since a young age affected males are taller than average with long limbs. About 20-50% have uncontrollable shaking. Men with this syndrome have lack upper body strength and are usually clumsy. Kids with this condition usually have a hard time learning to talk, read, and write. About 50% are dyslexic. Some have a hard time with social skills and are usually more shy, anxious, or immature. About 1/3 of patients have breast enlargement but some require breast reduction surgery. Another symptom is delayed or incomplete puberty. There are also no or smaller amounts of sperm cells. As a result testicales apper small and firmer than usual. Although it is rare this syndrome men can become or be infertile because of the lack of sperm. It could be possible that they have poor judgement and do not feel comfortable in stressful or large social situations. Some may also have anxiety, nervousness and depression.

Tests and Treatments

There is no treatment to cure Klinefelter syndrome but there are ways to help. A speech therapist or other educational help is best to have for kids that have Klinefelter syndrome. Testosterone injections can help when they hit puberty as well as the rest of their life. These injections can help produce much more normal development such as increased muscle mass, hair growth and an increase in sex drive. Although these injections will not increase testicular size, decrease in breast size or invert infertility. In a child or adult male chromosome testing can be done after birth on a small blood or skin sample. Testing for Klinefelter can be done during pregnancy. A test thet can be done is called chorionic vilus sampling as well as amniocentesis. Chorionic villus sampling is a test done early on in pregnancy to aquire a small sample of the placenta to test. Unlike Chorionic villus sampling amniocentesis happens later during pregnancy to take a sample of liquid surrounding the fetus for testing.

How is Klinefelter's syndrome inherited?

In a Klinefelter syndrome case, very early in a fetal development problem results in an uncommon number of chromosomes. Most likely men with Klinefelter syndrome will be born with 47 chromosomes instead of only 46. The extra chromosomes is an X chromosome. Instead of having a normal XY combinations, the affected male has an XXY combinations. There are also other chromosome changes involving and extra X chromosome. Mosaic Klinefelter syndrome happens when a couple of the cells have an extra X chromosome and some cells are normal male chromosome. Males with Mosaic Klinefelter syndrome have milder symptoms. It is also possible to have more than one aditional X chromosome, like 48 chromosome (XXY). People with 48 chromosomes are more severely affected than males with 47 chromosome. Klinefelter is not an inherited condition. If a women had a son that has/had Klinefelter syndrome there is not an increase risk of having another child with Klinefelter syndrome.

Current research and studies

Men that had Klinefelter syndrome were thought to be infertile until 1996 due to the fact that sperm in men could not be acquired. Over the last 10 years developments in microsurgical techniques and advances in artificial reproductive technologies gave the chance to over 50% of patients to have their own biological child. This was possible because of the combination of microsurgical testicular sperm extraction and in-vitro fertilization uses new retrieved sperm. Usable sperm can now be obtained form the examines by surgical biopsy, and a sperm can be directly injected into an ovum. In couples where the male has Klinefelter syndrome and went through intracytoplasmic sperm injection more than 60 children have resulted from this surgery. There has also been an increase in usable sperm in every ejactulation. This study was done by doctor Harold Chen along with Louisiana State University Medical Center.

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