Working to raise awareness of Klinefelter's Syndrome

and to provide help and advice to all those affected

Klinefelter's Syndrome Association UK

The Klinefelter's Syndrome Association (KSA) was founded in 1990 and achieved Registered Charity status in 1996

Stop Press

The next meeting of the Adult KS Members' Social group will be on

Saturday 26th July in the Bracknell area. This is a very informal group

which meets regularly for a drink, lunch and a chat.

 

If you would like more information please contact This e-mail address is being protected from spambots. You need JavaScript enabled to view it

 

 

KSA Conference 2014 was in Brighton on 28th. June.  

Psychologists who have experience of KS are rare but this year there were 4 of them working with small groups throughout the day. It was fantastic!

Join the next KSA Conference in Derby in June 2015


 

An Introduction

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 effects of the condition can greatly alleviate future problems. 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.

The KSA holds 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:

In children:

  • 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

In adults:

  • Infertility
  • Low sex drive/libido
  • Small testes
  • Poor upper body strength
  • Low self-esteem
  • Absence of, or sparse body/facial hair
  • Gynaecomastia (breast development)
  • Difficulty remembering recent conversations
  • Poor communication and social skills
  • Unexplained tiredness or lethargy

For more information about symptoms Consult Sid under the Health Issues tab.

Diagnosis

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.

The Prognosis

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.

Disclaimer

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.  

 

How to use this website

The Health Issues button above provides information on Symptoms, Indicators and Diagnosis (Consult SID) & Treatment, Options and Maintenance (Consult TOM). The KSA gratefully acknowledges the award of a grant from the British Society of Endocrinology without which the Consult SID & TOM pages would not have been feasible.

Free Downloads as the name implies provides listings of KSA publications and forms that are available to download free of charge. If you are logged in as a Member eXtra downloads are available free of charge.

The Research button provides details of research currently being conducted.

Fundraising offers suggestions on how you could help the KSA raise funds. The Web Shop sub menu features those websites where a percentage of sales are donated to charity.

The Membership button details the benefits of joining the KSA, such as, access to eXtra information on local support contacts, access to past newsletters, previous conferences, member experiences of KS, articles written by leading medical professionals on various aspects of KS, full research reports, local adult meetings, parent support group meetings, etc. The Join the KSA sub heading enables you to join online and have access to the Members eXtra pages.

The Links button provides website resources that have proven to be useful to members of the KSA, resources that could be useful, as well as, other websites owned by the KSA.

 

What could I be?

Full size imageWhat can I be?

KSA Activity Weekend 2014

You are too late for the April 2014 Activity Weekend which was a huge success so book soon for the next one!

Next 2014 Activity Weekend - 19th to 21st September.

Special 'Earlybird' price IF BOOKED BEFORE 8th August:

Cost: £80 for those with KS or under 19, £135 for other Members, £310 for Non-Members.

If booked later the the costs rise to £90, £145 and £350 respectively.

Please book early as the weekends fill up fast!!

 There is more information about Activity Weekends under the Read more.... link below.
 Contact me as soon as possible if you want further information or wish to book a place by phone on 01629 534402 or activityweekends@ksa-uk.net

Read more...

Who's Online

We have 9 guests and 1 member online

2015 Annual Conference & AGM

When: June 2015
Venue: Derby
Cost:   £ t b a

 

The 2014 Conference in Brighton was a huge success with delegates travelling from Ireland, Wales, Scotland and across England.

Nearly 50 attended the Friday Night Get-together!

 

 

  


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XXYTalk.com

The KSA's FREE International talk forum for those diagnosed KS/XXY


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