The genetic condition is one of the most common in the UK and may be a leading cause of infertility in men. Why does it so often go untreated?

Three years ago, Paul (not his real name), now 31, went to the doctor with stomach pains. His blood test came back with low testosterone levels. “We went to see a urologist and he said bluntly that we wouldn’t have any options to have kids with my sperm – we would have to use a donor or adopt,” he says. “My wife immediately burst into tears.” The couple had been trying for a child since they married in 2015. Paul was also devastated. “It put so much stress on me, because I thought I couldn’t give my wife or my family what they so desperately wanted.”

Eventually, Paul was diagnosed with Klinefelter syndrome. Affecting about one in 600 men, it is one of the most common genetic conditions in the UK, yet most people have never heard of it – including many who have it. Its symptoms – extra height, persistent tiredness, reduced bodily hair and small testes – can be difficult to identify, meaning it often goes unnoticed by patients and GPs. Untreated, however, it can lead to reduced testosterone and infertility, and even increased prevalence of testicular cancer.

The non-hereditary syndrome was first discovered in 1942. It is caused by the presence of an extra X chromosome, resulting in XXY, as opposed to XY. With only one in six men who have Klinefelter’s ever diagnosed, even though symptoms often emerge during puberty, it may be one of the leading unexplored causes of infertility. Now, the first clinic in the UK to deal solely with Klinefelter’s has opened at Guy’s hospital in London – and its clinicians believe it could revolutionise its treatment and diagnosis.

“By the time the Klinefelter’s patients get to us, they’re pretty much wrecks, since it can take up to two years to get the diagnosis,” says the urologist Tet Yap, who founded the clinic. The wait time is so long because patients are often referred by their GP (or, in some cases, by an infertility clinic) to a urologist and then an endocrinologist. Yap’s clinic is a “one-stop shop”, where patients can be seen by all the relevant specialists in one appointment.

Facebook Twitter Pinterest ‘I really feel for these guys spending so long not knowing what’s wrong with them’ ... Tet Yap, who founded the Klinefelter’s clinic at Guy’s hospital in London. Photograph: David Levene/The Guardian

“Most men are only diagnosed when they struggle to conceive,” Yap says. “This will be when they are in their 30s or older. And then they are often told they are totally infertile, which can be false information and devastating to receive.” The new clinic has genetic counsellors and psychosexual experts on hand to help patients come to terms with the potentially bad news and to plan the next steps for treatment. “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,” Yap says. “A lot of them are told they’re just making up their symptoms.”

After the crushing assessment by the urologist, Paul and his wife went to a private fertility clinic, which eventually referred him to Yap. The process took 18 months, even with private investment.

If men wish to pursue fertility treatment, the NHS currently funds it only through a female partner, which many clinicians feel is anachronistic and potentially damaging. “Partner fertility reduces with age. Normally by the time the men have been diagnosed, most of their partners have crossed the age limit for IVF funding, so it’s very frustrating for them,” says Yap. “They will have been on the pathway for two or three years, then finally get told: ‘Sorry, your partner doesn’t have access to funding.’”

Yap told Paul and his wife that they had a chance of conceiving themselves: Paul would need to start testosterone, then undergo a relatively new surgical procedure called microTESE – microsurgical testicular sperm extraction – by which sperm is extracted from the testes’ tubules. Paul has since had one, unsuccessful, round of IVF through microTESE, with another scheduled for March. “Because we were told ‘no’ right at the beginning, this opportunity is such a bonus. It wouldn’t happen without Yap and the clinic being here to put to rest all the uncertainty I was feeling for those 18 months.” He now volunteers at the clinic as a patient liaison, helping those with new diagnoses understand their options. “We need to encourage a greater awareness among GPs and men to get early diagnoses, because if you only find out when you want to have kids, like I did, then waiting years for treatment can feel like a lifetime.”

There’s a stigma around Klinefelter’s ... many people won’t disclose they have it, which means they don’t get support Raj Baksi

Paul credits his wife’s support for enabling him to persist with the treatment; others have been less fortunate. Raj Baksi, 46, found out he has Klinefelter’s a decade ago when he was trying for a child with his wife. After an unsuccessful microTESE operation, his relationship broke down. “Infertility can change everything,” he says.

Baksi has since become involved with the Klinefelter’s Syndrome Association and runs Facebook support groups for affected men from across the globe. “There’s a stigma around Klinefelter’s: some people’s families are really unsupportive, their friends can be embarrassed, and even some employers can see you differently. Many people won’t publicly disclose they have it, which means they don’t get the support they need.”

Alison Bridges, the chair of the Klinefelter’s Syndrome Association, says this is one of the reasons why the condition is largely unrecognised. “GPs think it’s rarer than it is, but it’s not rare – it’s just rarely diagnosed,” she says. “There is a lack of awareness, since men often don’t come forward, even if they are diagnosed, so we want to get them together to at least feel they are not alone in this.” The association has been running weekend camps for men with Klinefelter’s for the past 19 years, to encourage them to talk to each other. “Klinefelter’s men can often find it difficult to express themselves emotionally, as one of their symptoms,” says Bridges. “But on these weekends away we’ve seen huge changes in their outlook, from despair to hope.”

Leila Frodsham, a psychosexual specialist, works at the clinic to help men with Klinefelter’s gain the confidence to address their condition, as well as to help increase their chances of conceiving. “With Klinefelter’s, we might replace men’s testosterone or give them pills to perform better sexually, but then they still have an overriding anxiety that makes it difficult to have sex,” she says. “When sex becomes more about procreation than pleasure, it causes all sorts of problems, so I act as a voice for my patients, so they feel they can overcome this situation.”

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Charlotte Tomlinson, a genetic counsellor, says diagnosed men and their partners also need to prepare for the possibility of infertility, even after treatment. “The diagnosis is a huge challenge to masculine identity, especially if you’re trying for a child at the same time,” she says. “A lot of my work is broaching the subject of how to cope with the loss if the treatment doesn’t work.”

With success rates for sperm retrieval at only 10%, there is a high likelihood of this being the case. Clinicians emphasise that early intervention is key if men with Klinefelter’s want to reduce their symptoms and increase their chances of fertility. “If we can retrieve sperm at an early age, these men wouldn’t have to go down the path of surgery and infertility later, when there is more pressure on them,” says Yap. “That means perhaps screening young men and, above all, educating them on the symptoms to look out for.”

Henry Mitchell, 30, attended the first clinic Yap ran, in April, and has since had a successful microTESE operation to freeze his sperm for the future. “It was a huge relief that they could find sperm,” he says. “I’m lucky I found out early, because it could’ve been when I wanted kids and then it would’ve been a much lengthier and harder process. This has given me a safety net for the future.”

The clinic has limited capacity, but with all 10 slots for October filled and a growing waiting list, Yap believes it will only grow. “We’re already getting people coming from all over the country and even requests from abroad. Having all these specialists in one place also means we can develop new research and methods of better administering testosterone. These men and their partners shouldn’t have to live in such uncertainty.”