Syndrome of Klinefelter happens when males are born with an additional X chromosome. It can cause developmental issues in the adolescence and cause them to develop breasts, have lower genitals and struggle to develop facial hair.
The disease also raises the danger of cardiovascular disease, type-2 diabetes, and some cancers, affecting about one in 660 males.
The medical centre at Guy’s Hospital near London Bridge provides a one-stop-shop by bringing together all of your medical services – fertility experts, geneticists, endocrinologists, and psychological help-that are engaged in the therapy of the patient.
The goal is to make faster diagnoses, decrease the amount of hospitals that patients need to attend and decrease therapy delays. Some people only find out that they have the syndrome when they struggle to become fathers.
There is no cure, but testosterone replacement therapy can be used to treat it. IVF can assist them to understand.
The new service would lead to more rapid patients receiving treatments, Dr Tet Yap, urologist advisor to Guy’s and St Thomas ‘ NHS trust, told us.
“Men may suffer with the disease for years before they get a diagnosis that can be highly distressing and cause lasting pain,” he said. Last year, after having symptoms for more than a century, Henry Mitchell, 30, from Clapham, was diagnosed with Klinefelter syndrome.
He said: “When I was a teenager I first noticed symptoms. I realized my body wasn’t developing like other adolescent boys.
“I struggled to grow facial hair and for someone who’s genetically male, I had poor muscle tone. At the time, I felt very conscious but my GP didn’t believe there was anything to worry about.
“I began to experience pain in my testicles in the early twenties. My local GP took the problem more seriously this time, but the cause was unsure.
“I was eventually referred to an endocrinologist after a series of exams who fortunately suspected Klinefelter syndrome but it took about 18 months to diagnose the entire process.
“It was a enormous relief to get a diagnosis. Hospital service was brilliant. Klinefelter syndrome is a very complex disease so it’s good to have all the medical appointments I need under one roof the same day.”