Klinefelter Syndrome: A Genetic Disorder Affecting Males

Klinefelter syndrome is a condition in which a male has an extra X chromosome. This condition is commonly referred to as XXY condition. It is estimated that 1 out of every 500-1,000 newborn males are affected by this condition, making Klinefelter syndrome the most common genetic disorder among males. Women who have babies after the age of 35 have a slightly increased risk of having a baby boy born with this condition.

Signs and symptoms of Klinefelter syndrome vary from person to person. The more cells that are affected, the more severe the symptoms.

Babies that are born with Klinefelter syndrome often have no noticeable signs or symptoms at birth. As they grow older, symptoms may become present. These babies may have weak muscles and may take longer to sit up and crawl. They may also begin walking later than other babies. These babies tend to be quiet and do not demand a lot of attention.

During late childhood and teenage years, boys affected by Klinefelter syndrome may be taller than other boys and have longer legs. These boys may reach puberty later than their peers, and when they do reach puberty, they may have less muscular bodies, less facial and body hair than their male peers do. Those who are affected by Klinefelter syndrome produce less testosterone than the typical boy or teenager. This can lead to smaller, firmer testicles, broader hips, enlarged breast tissue, weaker bones and even a lower energy level than other boys their age. These differences can cause an affected boy to be less assertive and more shy than their peers. In addition to these problems, between 25 and 85 percent of boys affected with Klinefelter syndrome have language problems. Language problems include learning to talk later than other boys of the same age, trouble articulating thoughts and verbalizing needs, problems with reading, and trouble processing what they hear. These boys tend to be quieter, less self-confident, less active, and more willing to obey and help than other boys the same age.

During adulthood, men with Klinefelter syndrome appear normal, with the exception of being taller than average. Men that are affected by Klinefelter syndrome tend to have weak bones unless they are given testosterone replacement therapy. Most men with Klinefelter syndrome are infertile. Sexually, they can perform normally, but they are unable to father children. There are new treatments available to help these men father children. Men with Klinefelter syndrome are also more likely to have other health problems, such as autoimmune disorders, diseases of the veins, breast cancer, osteoporosis and tooth decay. These men tend to have a hard time doing work that requires them to read and write, but that does not stop them from holding down jobs and having productive careers. They tend to have normal social relationships, similar to other men who are not affected by Klinefelter syndrome.

Diagnosing Klinefelter syndrome requires various tests, including a physical examination, hormone testing and genetic testing. A physical examination includes a careful exam if the genital area and the chest, reflex tests, and mental function tests. Often, the doctor will ask about family medical history to determine what health problems may run in the family. A simple blood or urine test is done to check hormone levels. Genetic testing, called varityping is the most accurate test and can help to give a definitive diagnosis.

There is no cure for Klinefelter syndrome, however; there are treatments available to help minimize the effects of this disorder.

Because males with Klinefelter syndrome do not produce enough testosterone, testosterone replacement therapy can help to treat or prevent many of the problems associated with low testosterone levels. This treatment normally begins at the time when puberty would normally begin.

Many males with Klinefelter syndrome develop breasts do to hormone abnormalities. When testosterone replacement therapy alone does not stop the growth of breasts, the breast tissue can be surgically removed.

Fertility is an issue for most men affected with Klinefelter syndrome. Doctors can discuss many options with the affected man to determine if any of the options, from adoption to testicular sperm extraction are right for him.

Psychological counseling is often recommended for males affected with Klinefelter syndrome to help them cope with the various challenges they face. Counseling can help boys of puberty age cope with their differences to other boys the same age, and it can help men cope with infertility issues.

Educational support is available for boys who have trouble learning as a result of being affected by Klinefelter syndrome. Making the child's teacher aware of the learning disabilities, as well as talking to the school counselor, should result in the affected child receiving extra help in learning,

Physical and speech therapies can help overcome muscle weakness, poor muscle tone and difficulties in speech and language.

Early detection gives any male affected with Klinefelter syndrome the best chance at a more normal life. Through various treatments and therapies, an affected male can live a happy and productive life with much less difficulty than one that goes undiagnosed. If you notice any signs or symptoms of Klinefelter syndrome in your son, the best thing to do is seek medical advice.

Sources for this article include:

http://www.medicinenet.com/script/main/art.asp?articlekey=9610&pf=3&page=1
http://www.genome.gov/pfv.cfm?pageID=19519068
http://www.mayoclinic.com/health/klinefelter-syndrome