World’s first clinic to treat male genetic disease that causes infertility opens in London

The world’s first clinic for a little-known genetic disease that leaves thousands of men infertile has opened in London.

Klinefelter syndrome occurs when men are born with an extra X chromosome. It can cause childhood developmental problems and result in them growing breasts, having smaller genitals and struggling to grow facial hair.

The disease, which affects about one in 660 men, also increases the risk of cardiovascular disease, type-2 diabetes and some cancers.

The new clinic, at Guy’s Hospital near London Bridge, offers a “one-stop shop” by bringing together all the medical specialities involved in a patient’s treatment — fertility experts, geneticists, endocrinologists and psychological support.

The aim is for quicker diagnoses, to cut the number of clinics patients need to attend and reduce waits for treatment. Some men only discover they have the syndrome when they struggle to become fathers.

There is no cure but it can be treated with testosterone replacement therapy. IVF can help them to conceive.

Dr Tet Yap, consultant urologist at Guy’s and St Thomas’ NHS trust, said the new service would mean patients receiving treatments quicker. 

“Men can suffer for years with the condition before they receive a diagnosis, which can be extremely distressing and cause prolonged pain,” he said. Henry Mitchell, 30, from Clapham, was diagnosed with Klinefelter syndrome last year after experiencing symptoms for more than a decade. 

Henry Mitchell was diagnosed with Klinefelter syndrome last year (Guy’s and St Thomas’ NHS trust)

He 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 was anything to worry about.

“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. The service at the hospital has been brilliant. 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.” 


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