UK first one-stop-shop for young people with male genetic disease

Guy’s and St Thomas’ has launched the UK’s first multidisciplinary clinic to treat young people with a male genetic disease.

The clinic will support young people aged 16-21 with Klinefelter syndrome, a chromosomal condition that affects around 1 in every 660 males.

Males with the condition are born with an extra X chromosome. Usually, a male baby has one X and one Y chromosome and a female baby has two X chromosomes. 

Klinefelter syndrome can cause male infertility and increases risk of Type 2 diabetes and cardiovascular disease. 

The condition can also cause problems with learning, attention, energy levels and socialising. It can affect muscles, testicles, facial and body hair growth.

Klinefelter syndrome is still relatively unknown and can take sufferers many years to get a diagnosis. Usually young people are diagnosed after experiencing behavioural and developmental problems at school.

The condition is treated with testosterone replacement therapy but patients need access to a range of medical specialties, including fertility experts, geneticists, endocrinologists and psychological support.

The new one-stop-shop clinic brings all these medical specialities together in one setting. This reduces the number of visits a patient will have to make, from an average of six appointments to just one, and reduces waiting times by around 12 months.

The Klinefelter syndrome clinic is based at the Rare Diseases Centre in St Thomas’ Hospital and will run four times a year.

In 2019, Guy’s and St Thomas’ launched the world’s first Klinefelter syndrome clinic for adults.

Mr Tet Yep, consultant andrological surgeon and lead for 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 16 year old 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 as a patient liaison for the new clinic to provide peer support to 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% 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."