Guy’s Hospital: first ever clinic opens for boys and young men with little known syndrome

Kit Heren (19 May, 2021)

Men and boys with Klinefelter Syndrome have one extra X chromosome

44696Mr Tet Yap, who runs the new clinic

Guy’s and St Thomas’ NHS trust has launched the first clinic for boys and young men with a rare genetic disease.

Klinefelter syndrome is still relatively little understood. Men usually have one X chromosome but boys with the condition are born with two.

This can result in physical, mental and behavioural challenges – including muscle development, hair growth and problems with socialising and at school.

Roughly one in every 600 men has the condition but it is still relatively unknown and a diagnosis can take years. People with the condition are given extra testosterone but also need other facilities, like fertility experts and psychological help.

The new centre at Guy’s, which opened this month, brings all these together in one clinic. The hospital opened a Klinefelter syndrome centre for adults in 2019.

Tet Yap, who leads the Klinefelter syndrome clinic at Guy’s and St Thomas said: “We are absolutely delighted to open our Klinefelter syndrome clinic for young people.

“After we launched our adult clinic it became very clear that we needed a service that catered specifically to the needs of young people. Some patients are more aware of their symptoms during their adolescent years and this can cause distress during what is already a very vulnerable time.

“It can also take young people a long time to get diagnosed and many have difficulties with their education and are often labelled slow and lazy when actually they have an untreated condition. Having good support, especially psychological support, can make a difference between them continuing their education and going to university or not going anywhere at all.”

Alison, a mother from South London, has been attending the clinic with her teenage son, who was diagnosed with Klinefelter syndrome when he was four years old.

Alison said: “I was very impressed by the clinic. It’s great to finally get support from healthcare professionals from different disciplines who fully understand Klinefelter syndrome and how it affects my son. Everyone was very supportive and wanted to help as much as they could.

“Thanks to the clinic my son has been able to get psychological support for the first time ever. Due to the condition he is very shy, introverted and nervous, especially in social situations, and the psychological support has really helped him to open up and find ways to manage these issues.

“His confidence has improved and he has started attending social events without us. He has become much more engaged in his condition and more amenable to treatments. We feel very confident he is in a good place and are very hopeful about his future.”

Raj Baksi, a volunteer for the charity Klinefelter’s Syndrome Association, was diagnosed with the condition aged 36. He volunteers at the new clinic to support patients.

Raj said: “The clinic is a very supportive space for young people to understand their condition and to identify what support and care they need. I have a friendly chat with patients about my experiences of living with it and I often find that it helps them to open up. Their parents also really value speaking to someone who has lived with the condition for a long time.

“I was diagnosed following fertility investigations but prior to that I didn’t have many obvious symptoms. The main thing I struggled with was my weight, but an earlier diagnosis and access to a clinic like this would have helped me to better understand the condition and how it would affect my life.

“Up to 75 per cent of people with the condition aren’t diagnosed and many are unaware that they have it until they start trying for a family and experience fertility problems.

“People with Klinefelter syndrome can lead very normal lives but it’s really important that we raise awareness of the condition so that they are able to get the support and treatment they need.”

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