Oconomowoc Developmental Training Center


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KLINEFELTER'S Syndrome (XXY)

Overview

The group of symptoms with Klinefelter's Syndrome (found only in males) was first described in 1942 by Dr. Harry Klinefelter and his coworkers. In the late 1950s other researchers indicated that males with these specific symptoms had an extra X chromosome (XXY) instead of the usual XY configuration found in males.

It appears from studies that the XXY chromosome arrangement is one of the most common genetic chromosomal variations found in humans, occurring in as many as one out of every 500 to 1,000 male births. Although the XXY arrangement is widespread in males, Klinefelter's Syndrome (the set of symptoms and characteristics resulting from the extra X chromosome) is not common. Many males show no abnormalities at all.

Characteristics/Symptoms

For those males who develop Klinefelter's Syndrome, typical characteristics and symptoms include:

Rounded body type
Tall stature
Sterility (inability to produce sperm)
Enlarged breasts (gynecomastia)
Sparse facial and body hair
Underdeveloped muscles
Small testes
Difficulties in social situations (shy, passive, apathetic, sensitive, dependent, more immature and less confident than other boys their age
Lowered self-esteem
Learning difficulties
Expressive speech and language problems (difficulties putting ideas and thoughts into words) with near-normal understanding of what is said (near normal receptive language skills)
High-pitched voice
Difficulty recalling what was just heard (decreased immediate auditory recall)
Difficulty learning to read and write
Level of activity and endurance lower than other boys their age
Restless sleep patterns, but hard to awake in the morning
Frustrated with behavorial outbursts
Overweight
Hand tremors
Well behaved in the classroom-cooperative and eager to please the teacher
Tendency to withdraw when presented with difficult material (may result in the child falling behind in the curriculum)

Causes

Normally, males have one X chromosome and one Y chromosome (XY). Males with Klinefelter's Syndrome have inherited an extra X chromosome (from either the mother or the father), giving them an XXY configuration. In approximately 2/3 of the cases the extra X chromosome is maternal in origin, and is paternal in origin in approximately 1/3 of cases. The X and Y chromosomes are known as the sex chromosomes. The additional X chromosome results in a hormone imbalance in the males.

There are some variations in Klinefelter's Syndrome which may occur, such as 48XXXY or 48XXYY, among others. Differential diagnosis is important in formal specific identification of Klinefelter's Syndrome.

Treatment

Treatment of Klinefelter's Syndrome is symptomatic. Speech therapy may be beneficial to those children who experience speech and language difficulties. A small classroom setting is important because the child needs sufficient individual attention from the teacher so that he does not fall behind in the curriculum.

Testosterone (male hormone) treatment beginning at puberty may be beneficial. Regulary scheduled testosterone injections usually improve strength, muscle size and growth of facial and body hair. This often times also results in increased self-confidence.

At ODTC, we follow the generally accepted methods of treatment, as outlined above. Our treatment team considers the strengths and needs of each child in order to develop an individual treatment plan. We establish consistent routines which become familiar to the child. Our structured environment is designed to avoid over-excitement of the child. Of primary importance to the child with Klinefelter's Syndrome is improving self-image and confidence, supporting and reinforcing progress in academic functioning, social skills training, the development of adaptive and semi-independent living skills, as well as improving peer and adult relationships. Our education staff offer a curriculum and classroom support to bring out the child's strengths, using visual learning methods, such as pictures and gestures to illustrate words.

The staff at ODTC recognize that each child is unique with individual strengths and needs. Our priority is always the well being of each child. If we find that ODTC cannot offer the very best care and services for your child, we are happy to help facilitate placement in another facility.

Contact Information

Feel free to contact us if you have any specific questions or would simply like more information or resources.