World's first clinic for "distressing" genetic disease affecting men

Guy’s and St Thomas’ NHS Foundation Trust has launched the world’s first clinic for a little-known genetic disease that affects tens of thousands of men.

The new service supports patients with Klinefelter syndrome, a common chromosomal condition where men are born with an extra X chromosome.

Usually, a female baby has two X chromosomes and a male has one X and one Y. The condition is quite common and affects around 1 in every 660 males.

The condition can cause male infertility and increases risk of Type 2 diabetes, cardiovascular disease and some cancers.  

Men with the condition can also develop breasts, struggle to grow facial hair and have smaller than average testicles.

The condition is still relatively unknown so it can take sufferers many years to get a diagnosis and some only find out when they are trying to conceive.

Klinefelter syndrome 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.

As part of the clinic a care management plan is also developed for the patient, which is shared with their GP.

Dr Tet Yap, consultant urologist at Guy’s and St Thomas’, said: “We are absolutely delighted to launch the world’s first clinic for men living with Klinefelter syndrome.

“Our new service will help to raise the profile of what is still a relatively unknown condition and will also mean that our patients will have access to a multidisciplinary team of experts in one setting and receive treatments quicker.

“The feedback from our patients has been extremely positive. Men can suffer for years with the condition before they receive a diagnosis, which can be extremely distressing and cause prolonged pain so it’s very pleasing to know that the clinic is making a positive difference to their lives.”

Henry Mitchell, 30, from Clapham in South London, was diagnosed with Klinefelter syndrome last year after experiencing symptoms for more than ten years. Henry said: “I first noticed symptoms when I was a teenager. I became aware that my body wasn’t developing in the same way as other teenage boys.

“I struggled to grow facial hair and I had poor muscle tone for someone who is genetically male. I felt very conscious at the time but my GP didn’t think there wasn’t anything to worry about.

“I put it all to the back of my mind but in my late twenties I started to experience pain in my testicles. This time my local GP took the issue more seriously but he was uncertain about the cause. After a series of tests I was eventually referred to an endocrinologist who thankfully suspected Klinefelter syndrome but the whole process took around 18 months to diagnose.

“Getting a diagnosis was a huge relief. All of the health problems I had been experiencing suddenly made sense. Once I received a diagnosis I was immediately referred to Guy’s Hospital to begin treatment.

“The service at the hospital has been brilliant and the new clinic has made it even easier to get the support I need. Klinefelter syndrome is a very complicated condition so it’s great having all the medical appointments I need on the same day under one roof.”

The Klinefelter syndrome clinic is based at Guy’s Hospital and will run three times a year.