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Klinefelter Syndrome is one of the most common unexplored causes of male infertility. In fact it is one of the most common genetic conditions in the UK, affecting about 1 in 600 men. That equates to around 60,000 males in the UK and about a quarter of a million in the US.

What is Klinefelter Syndrome?

Dr. Harry Klinefelter, of Massachusetts Hospital in Boston, discovered it in 1942. He noted that the main symptoms were:

  • Extra height
  • Persistent tiredness
  • Reduced bodily hair
  • Small testes
  • Infertility

In 1956 it was found that Klinefelter Syndrome is caused by the presence of an extra X chromosome. This results in in XXY, as opposed to the usual XY for men.

The symptoms are quite subtle, meaning that they can go unnoticed by both patients and GPs. Patients are often only diagnosed when they fail to conceive. Untreated, it can lead to reduced testosterone and infertility, and also increased risk of testicular cancer.

Patients are often passed along a chain of healthcare professionals before they get a firm diagnosis.

One London clinic said, 
“When Klinefelter’s patients get to us, they’re pretty much wrecked. It can take up to two years to get diagnosed. The process of diagnosis and then treatment is exhausting. I really feel for these guys spending so long not knowing what’s wrong with them.”

A Klinefelter patient said, “We need to encourage a greater awareness among GPs and men to get early diagnoses. Finding out when you want to have kids, then waiting years for treatment can feel like a lifetime.”

Treatment

Once diagnosed, patients need to start testosterone treatment. They may also undergo a microTESE (microsurgical testicular sperm extraction). In this procedure sperm is extracted from the testes.

Early intervention is key if men with Klinefelter’s want to increase their chances of conception. For instance, if sperm can be retrieved at an early age, men would not have to go through surgery later. This would man a screening programme of young men to educate them and GPs on the symptoms.

Alison Bridges, Chair, Klinefelter Syndrome Association said, “GPs think it’s rarer than it is. It’s not rare; it’s just rarely diagnosed. There is a lack of awareness. Men often don’t come forward, even if they are diagnosed. We want to get them together so they are not alone in this.”

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