A Letter from the Chair of the KSA to all concerned with Klinefelter's Syndrome or XXY:
As you will know XXYs are not automatically exempt from prescription charges the way those with, say, diabetes are and prescription costs can be a real problem for many of our members.
The KSA are part of the Prescription Charges Coalition which has just published a report called ‘Paying the Price’, calling for free prescriptions for those affected by long term conditions such as KS/XXY.
Would you please support this campaign by clicking on the link below and completing your details which will be incorporated into an email which will be sent directly to your MP?
It will take only a few minutes and the more people who respond, the more chance there is of success. Ask family and friends to join in to.
Klinefelter's Syndrome (KS) is caused by a common congenital condition which is found in around 1 in 650 live male births and is the result of the presence of one or more additional sex chromosomes. Chromosomes are genetic material and a person's sex is determined by X and Y chromosomes. Generally males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). Klinefelter's Syndrome is characterised by the presence of an additional chromosome (XXY).
KS is diagnosed by a blood test which identifies the karyotype i.e. the number, size and shape of the chromosomes.
The Klinefelter's Syndrome Association
We offer support and information to all affected by, or having an interest in, Klinefelter’s Syndrome. Through our website and helpline we have information available which can assist employers, teachers, social workers and the medical professions, amongst others, who come into contact with people diagnosed with Klinefelter's Syndrome (KS).
Early diagnosis and a good understanding of the implications of the condition can greatly alleviate future problems and therefore the Association seeks to raise the profile of the condition with the medical profession, other public and private bodies and the general public so that all understand its implications, not only for the individual affected, but also for all those with whom they have contact during their lives.
We hold an annual Conference and AGM in June and an Activity Weekend is run each spring and autumn. A Members’ newsletter is published at least 3 times each year. The KSA hosts a chat forum XXYTalk.com and there is a local rate (UK only) HelpLine.
The charity is run entirely by voluntary workers who make up a National Executive Committee (NEC) and is funded mainly through membership fees and donations.
Symptoms of KS
KS is characterised by a collection of symptoms the presence or absence of which can vary widely. The most common symptoms include:
- Speech and language development disorders
- Short attention span, easily distracted
- Lack of agility and dislike of physical games, especially team games
- Passive, shy
- Difficulty with self expression
- Tall stature with disproportionally long legs and arms (euneuchoidism)
- Moderate learning difficulties
- Tiredness or lethargy for no apparent reason
- Low sex drive/libido
- Poor upper body strength
- Small testes
- Low self-esteem
- Absence of, or sparse body/facial hair
- Gynaecomastia (breast development)
- Difficulty remembering recent conversations
- Poor communication and social skills
For more information about symptoms Consult Sid under the Health Issues tab.
Early diagnosis and a good understanding of the implications of the condition can greatly alleviate future problems for both the person with the condition and those with whom they have close contact. As a result the Klinefelter's Syndrome Association is working to raise the profile of the condition generally but within the medical profession in particular.
The five most likely triggers for diagnosis are:
- During pregnancy if screening was carried out for Down's Syndrome etc. the extra chromosome would be discovered.
- Pre-school if the child has a language delay or disorder.
- During schooling if the youngster is having difficulties either socially or academically.
- During adolescence if there is some breast development or if puberty is delayed significantly.
- In adulthood as a result of fertility investigations.
However, late diagnosis is commonplace. A recent research project sponsored by the KSA highlighted this fact:
- 16% were diagnosed when they were under 10 years old
- 11% between the ages of 11 and 17 years of age
- 29% when they were a young adult between the ages of 18 - 28 years
- 39% when they were between 29 and 55 years of age
It is not known why diagnosis is often not made until later in life, nor for that matter, why diagnosis rates are so poor, currently about 25% are diagnosed. Some health care professionals suggest that it is because it is difficult to identify. Others suggest that the majority of those with the condition do not experience problems of sufficient severity to warrant seeking help or advice.
Admittedly the symptoms displayed vary from person to person but the KSA, from years of experience of dealing with the 'victims' of late diagnosis, questions these assumptions. When some of the symptoms are considered - shyness verging on severe introversion, difficulty with communication, poor social skills and self-expression - is it any wonder that many are unable to seek help and advice?
This is further compounded by the fact that some symptoms are of an intimate nature which can make discussion with others, even doctors, extremely daunting as well as causing possible psychological trauma and withdrawal from society. Then, when someone does manage to build up enough courage to broach the matter with their GP often he has so little knowledge of KS that either no diagnosis is made or the doctor may recognise KS but not offer the correct support and treatment.
The KSA are committed to improving the rate and the age of diagnosis by raising awareness of the condition, its symptom and effects. For more information about diagnosis Consult Sid under the Health Issues tab.
Much of the early literature about KS mentions the high proportion of KS males in the prison population and low IQ. These old medical books often paint a rather bleak picture. However it is now accepted that, although many with the condition do have some learning difficulties, with appropriate support these often can be overcome. The KSA has created a poster 'What could I be?' (to the left) to help raise awareness of the skills and achievements of a cross-section of our members. In the 'Members' Only' section of the website there are some full profiles which we hope will change the perception of the abilities of those with XXY.
While XXY (non-mosaic) men have always been considered to be infertile, it is now known that young adults may have some viable sperm which could be extracted. Although the success rate is not very high at present, techniques are improving very quickly.
The Scientific Background in Brief
In 1942 Dr Harry Klinefelter, a Baltimore endocrinologist and his co-workers who were working at the Massachusetts General Hospital, published a study about nine men who had enlarged breasts, sparse facial & body hair & small, firm, infertile testes.
By the late 1950s other researchers discovered that subjects with Klinefelter's Syndrome had an extra sex chromosome giving them a karyotype of 47XXY.
While women usually inherit two X chromosomes - one from each parent, men inherit an X from their mothers and a Y from their fathers. However occasionally an egg with two Xs (XX) or a sperm with both an X and a Y (XY) can occur resulting in two chances of producing an XXY male. Either an XY sperm fertilises an X egg or a Y sperm fertilises an XX egg.
There are other less common variations; for example 48XXXY or 49XXXXY. There is also a mosaic type where some of the body cells do not have the extra chromosome. All are known as Klinefelter’s Syndrome.
Although all information on this site is correct to the best of our knowledge,the KSA (UK) recommends that you verify all facts before acting upon them. Medical treatment and advice should always be confirmed by your GP (family doctor) or consultant.
Copyright ©Klinefelter's Syndrome Association UK 2011. No information may be reproduced elsewhere without the prior written consent of the KSA National Executive Committee.