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Klinefelter Syndrome

Introduction

Klinefelter syndrome (KS) is a genetic disorder that is thought to be the most common chromosomal variation found in humans, with an occurrence rate of 1 in every 500 to 1,000 live born males. KS, which is found exclusively in males, is caused by a variation in the sex chromosomes, resulting in a hormone imbalance. KS occurs when a male has an extra X chromosome. That is, instead of having the typical 46 chromosomes, males with KS have 47 (typical males are classified as 46, XY, where they inherit the X chromosome from their mother and the Y chromosome from their father; males with KS are 47, XXY). The extra chromosome can be inherited from either the mother or the father, however, advanced maternal age does increase the risk slightly of having a child with XXY.

KS was first described in 1942 by Dr. Harry Klinefelter and coworkers at Massachusetts General Hospital in Boston. In the late 1950's it was then revealed by other researchers that the cause of KS was due to an extra X chromosome.

 

Features and Characteristics

Not all males with XXY actually develop the syndrome (or its symptoms and characteristics). In fact, many males show no abnormalities at all. However, for those who have developed KS, the following characteristics have been identified:

 

Diagnosis

Because males with XXY often times don’t look any different from any other male, many remain undiagnosed their entire lives. Of course, for those who develop KS, it is beneficial for the child to be diagnosed as soon as possible so that the learning disabilities and behavioral issues can be addressed and managed early on.

The soonest a male can be identified as having XXY is prior to birth. With the use of an amniocentesis or chorionic villus sampling (CVS), the chromosome variation can be detected. If, however, prenatal testing was not considered, the child may not be diagnosed until he enters school, where he begins to show a delay in language skills and difficulty with reading and writing. If at that point KS is considered, a simple blood test can confirm the syndrome.

 

Treatment

There is no cure for KS, therefore, treatment is symptomatic. Regular injections of the male hormone, testosterone, beginning at puberty, can have positive effects on many of the symptoms. In some cases, for those who have developed excessive breast tissue, surgery may be required. As many children with KS have speech and language difficulties, it may also be helpful to work with a speech pathologist.

In terms of the child’s education, boys with KS are typically well behaved in the classroom and are eager to please the teacher. However, if they are presented with material that they find difficult, they tend to withdraw. If it goes unnoticed by the teacher, the child may fall behind in the curriculum and may need to be held back a grade. Therefore, it is important, for the success of the child, to be in a small classroom where he can receive sufficient individual attention from the teacher. The child’s chances of success are even greater if the parents and school cooperate to form an individualized education plan and provide related services if necessary.

 

What to Expect

The adolescent years can be difficult. Boys with KS tend not to be as strong or as athletic as other boys. This lack of strength and agility, combined with learning disabilities may damage self-esteem. Counseling in the adolescent years, therefore, may be necessary.

Little is known about adults with KS. One study in particular, however, found that men with KS were more likely to have scholastic failure, depression and other psychological problems, as well as a lack of energy and enthusiasm. However, by the time the men reached their forties, most had overcome their problems. The majority of men also reported that their energy and activity levels had increased, that they were more productive on the job, and that their relationships with other people had improved. The study also revealed, however, that men with KS were less likely to have been married than typical males.

Generally speaking, it is expected that if boys with KS receive appropriate intervention, such as counseling and testosterone treatment, in the early years, they can live a very full and productive life.

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with Klinefelter syndrome, please visit the following website for instructions: http://www.genetic.org/ks/support/join_list.htm

For more information on KS, please see the following references:

 

The Disorder Zone has been created for educational purposes only and is not intended to serve as medical advice. The information provided in The Zone should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If your child has any health concerns, please consult your health care provider.

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