Klinefelter's Syndrome (FAQs)
What is Klinefelter syndrome?
Why does it happen?
What are the chances of it happening in another pregnancy?
How does Klinefelter syndrome affect a person?
Does a person with Klinefelter syndrome look different?
Can a person with Klinefelter syndrome walk?
Do people with Klinefelter syndrome need medical treatment?
What sorts of lives do people with Klinefelter syndrome lead?
Can people with Klinefelter syndrome have children?
Do people with Klinefelter syndrome have a reduced life expectancy?
Who can I contact for more information?
What is Klinefelter syndrome?
The word syndrome means a collection of characteristics. The name Klinefelter's comes from Dr Henry Klinefelter, who in 1942 published a study about nine men who had enlarged breasts, sparse facial and body hair and infertility. It is one of the commonest chromosome disorders known with an incidence of 1 in every 750 male births. Klinefelter's syndrome affects only males.
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Why does it happen?
Usually, each cell in a man's body contains one X and one Y chromosome (XY). In men with Klinefelter's syndrome some or all of the cells contain an extra X chromosome (XXY). If only some of the cells contain this additional X, then it is referred to as mosaicism. Klinefelter's syndrome can occur when either a sperm with both an X and a Y chromosome (XY) fertilises a normal egg (X), or an egg with two X chromosomes (XX) is fertilised by a normal sperm containing a Y (Y).
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What are the chances of it happening in another pregnancy?
The recurrence risk of Klinefelter's syndrome is XXXX.
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How does Klinefelter syndrome affect a person?
There is enormous variation in the affects of Klinefelter's syndrome. Some men are not aware that they have this condition and the diagnosis is made for an incidental reason such as during investigations into infertility. Characteristic features that may be seen in men with seen in men with Klinefelter's syndrome include:
Breast development (in 25% of cases)
Lack of facial and body hair
A pear shaped body
Taller than average height
Increased risk of autoimmune disorders, such as type I diabetes
Learning difficulties (with reading and concentration, not mental retardation)
Behavioural problems Boys with Klinefelter's syndrome are often very sensitive, passive and shy
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Does a person with Klinefelter syndrome look different?
There are no characteristic facial features or major physical abnormalities associated with Klinefelter's syndrome. During childhood, many boys with KS grow faster and have a tendency to be thin with poor muscle development. From the age of 7 there is a tendency to put on fat in about 75% of men with KS and so they are more likely to be overweight. Some men with Klinefelter's syndrome may develop enlarged breasts. Sparse facial and body hair is also associated with this condition. Surgery can reduce breast size and regular injections of testosterone will increase strength and muscle size, and promote the growth of facial and body hair.
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Can a person with Klinefelter syndrome walk?
Yes.
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Do people with Klinefelter syndrome need medical treatment?
Most men with Klinefelter's syndrome do not have health problems. Surgery may be required in some cases to reduce breast size and regular injections of testosterone can be given to promote the growth of facial and body hair.
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What sorts of lives do people with Klinefelter syndrome lead?
The majority of men with Klinefelter's syndrome lead normal, happy, healthy lives. In many cases men with Klinefelter's syndrome would not know they had the condition and for this reason a diagnosis may only be made later in life and for incidental reasons. Men with Klinefelter's syndrome tend to be infertile, and this may be an issue if a man wants to have children.
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Can people with Klinefelter syndrome have children?
The vast majority of men with Klinefelter's syndrome do not produce enough sperm to allow them to become fathers. However it should not be assumed that all these men are infertile without testing. Some men with Klinefelter's syndrome have fathered children. For men with Klinefelter's syndrome who want to have children there is the option of IVF using anonymously donated sperm.
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Do people with Klinefelter syndrome have a reduced life expectancy?
No.
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Who can I contact for more information?
Klinefelter's Syndrome Association
56 Little Yeldham Road,
Little Yeldham
Halstead
CO9 4QT
Tel: 0845 230 0047
Fax: 01389 380384
Email: enquiries@ksa-uk.co.uk
http://www.ksa-uk.co.uk
Klinefelter Organisation
PO Box 128 ,
Netherton
Wakefield
WF1 4XY
Tel: 01204 306 759
Email: ko.info@talk21.com
http://www.klinefelter.org.uk
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