Klinefelter Syndrome is diagnosed by a genetic blood test that identifies the karyotype, meaning the number, size and shape of the chromosomes. People with Klinefelter Syndrome are born with an extra X chromosome.
Men (46 XY) and women (46 XX) usually have 23 pairs of chromosomes, so 46 chromosomes in total.
Men with Klinefelter Syndrome usually have an extra X chromosome hence the karyotype 47 XXY. (There are some with XXXY and rarely XXXXY).
People sometimes have other classical symptoms of the condition however these characteristics do not automatically connect if there is no prior knowledge of the condition!
A classic example of this is height, many Klinefelter Syndrome are over 6 feet tall when other family members of their family may not be as tall. However not all Klinefelter Syndrome are tall, some are more average height.
It is important to recognise that Klinefelter Syndrome is a spectrum condition; not all patients experience the same symptoms and the level of severity varies significantly.
Throughout this site you will find out more about Klinefelter Syndrome and some of the characteristics may seem familiar and relatable to your experience of the condition.
As Klinefelter Syndrome is diagnosed by a genetic blood test often associate the word ‘genetic’ with conditions being passed on by parents however Klinefelter Syndrome is not thought to be passed on through generations. As far as doctors know Klinefelter Syndrome occurs at random and is not passed from either parent to child.
I was diagnosed with Klinefelter Syndrome during fertility testing when in my mid 30’s. At the time I was presented with two pieces of information; Infertility and having Klinefelter Syndrome, a condition which I had never heard of before. Most people haven’t heard of Klinefelter Syndrome before. It was first recognised in 1942 and even today awareness is still relatively low.
I gradually learned more about the condition through my own research and by talking to other people with Klinefelter Syndrome. I realised that there were few support groups available in which patients could speak to each other.
Information on the web wasn’t always accurate and often painted a rather bleak picture. Indeed this situation of how the condition is often inaccurately portrayed continues to exist even to date which is partly why I am so active as a supporter to patients and their families.
I set up a number secret Facebook support groups to help patients and their families. The reason they are secret – which means that they do not come up in searches and are accessible by invite only – is that not all KS/XXY’s disclose their diagnosis to family & friends. Even if they do, discussing things of a private or personal nature may not be what they want friends and family to see via their Facebook profile.
If the groups were public, family & friends might see the individual has a connection with such groups and may ask why. So the secret status protects their identity and keeps their association with Klinefelter Syndrome as private.
Some people are open with their diagnosis which is of course a matter of choice. Many people choose not to be open about XXY and I fully respect that.
So the secret status means that people can discuss things that are of a private, personal or sensitive nature with their peers in confidence of privacy.
I am open with my diagnosis so that I can help other people and be a visible representative of our community.
I also work as a volunteer with the St Thomas Hospital Klinefelter Syndrome clinic in London as a patient supporter by participating in clinics to introduce patients to further support and to give them the change to ‘meet’ and interact with another Klinefelter Syndrome patient; to help them feel less alone and to gain further support.
The clinic was featured on London TV news in 2019 and since then I have become very involved in the clinics.