A man who only discovered he had Klinefelter syndrome when he and his wife failed to conceive naturally.

FRI, 09 OCT, 2020 – 7:46 Written by: Ailin Quinlan

THROUGHOUT childhood and adolescence, Luke* was tall compared to his friends, but as he grew older, he did not seem to be producing much body hair.

As a child, he had an operation for undescended testicles. And although the youngster was very athletic and loved sports, he did not seem to be able to “accelerate” as fast as the other boys. At the time, none of these issues seemed to be either connected or warrant further investigation. However, in his late 30s, and after a series of tests to discover why he and his wife were unable to conceive, all these little things suddenly made sense.

In September 2017 the Co Kildare man was diagnosed with Klinefelter syndrome, a genetic condition in boys and men which results from the presence of an extra X chromosome in cells. It often goes unidentified, and even when it is diagnosed, it is not usually spotted until adulthood. In fact, according to Dr John Waterstone, medical director of The Waterstone Clinic, it is believed that only about 25% of men with the condition are diagnosed.

Klinefelter syndrome, which occurs in one to two per 1,000 newborn males, can hamper testicular growth and lead to lower production of testosterone, reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.

However, although the effects of the syndrome vary, and not everyone has the same symptoms, the condition is one of the more common chromosomal abnormalities, affecting about one in every 600 males.

“About 90% of men with Klinefelter have no sperm at all,” says Dr Waterstone. “The chances of having a child are very low. It’s practically impossible for a man with Klinefelter syndrome to get their partner pregnant naturally.”

The effects of hearing this can be devastating for a man.

“Men tend to be upset at the fact that they are labelled as abnormal — they would not get overtly upset but they would be wounded at a deep level,” Dr Waterstone says.


Now aged 40, Luke is the happy father of two, one-year-old twins. However, it has been a long, hard, painful, and expensive journey:

“My wife and I had been trying to have children for about a year when she decided we needed to have some investigations done,” he says.

The first sperm analysis showed a complete absence of sperm. A second test showed the same results.

“At the time I was doing a lot of long-distance running so I wasn’t that concerned. I thought all that training might be affecting me,” he says.

However, he recalls, he went into shock when, after examining the results, a consultant bluntly advised him to move on and forget about having children.

Heartbreakingly, around this time Luke also began to have an upsetting and recurring dream about a two-year-old. “As the child ran towards me it would slowly begin to fade into thin air and I would be left kneeling down with my arms out to catch a child that didn’t exist.”

Further tests, carried out in London, diagnosed Klinefelter syndrome and the young husband endured a series of invasive and often debilitating tests and procedures.

Although doctors did discover ‘building blocks’ of sperm in his testicles, “it still wasn’t enough to make sperm”.

Luke had an intensive programme of steroids and was required to undergo regular injections to the stomach to boost his testosterone levels, which were about half the normal level.

He says: “The idea was that I might produce more sperm but that was unsuccessful.”

A special operation, carried out to find sperm in his testicles, was unsuccessful.

This was followed by two failed attempts at IVF, carried out with donor sperm.

“In the end, we conceived our twins through two embryos, which were conceived using donor sperm and my wife’s eggs, and our twins were born, in autumn 2019,” Luke says.

In all the long list of tests and procedures cost about €30,000.


While the financial cost was enormous, and the physical impact of all the tests was debilitating, there was also a huge emotional effect.

“I had counselling with a therapist who specialised in dealing with the impact of grief and fertility and I think that helped massively,” he says, adding that the discovery he was unable to make his wife pregnant had a significant impact on him.

“There was a lot of grief and frustration. I drank more and played a lot of violent video games, but if it was not for the counselling it would have been worse.“

There is a “massive amount of fear” involved for men experiencing difficulty in procreating, says Dr John Kennedy, group medical director at Sims IVF clinic.

“When you tell a guy that his sperm count is normal or high you can see him punching the air, it’s very tied up with his sense of masculinity — and when you tell a man that not just is his sperm count low, but that it is zero, you’re knocking him for six.”

Most men tend to find it difficult to talk about their infertility issues, says Luke, who found it impossible to find another male willing to discuss the pain and frustration of infertility.

In the end, he started running again, which he found helped to work off the frustration and lift his mood. He also joined Nisig, the National Infertility Support and Information Group.

“Nisig was brilliant. I still attend a group and I find a lot of the men have great difficulty expressing the way they feel,” he says.

In Ireland, people feel the shame of not being able to conceive. There is also a dismissive attitude to infertility — it’s like, ‘oh, go on, have a beer and forget about it’.

Men’s response to infertility tends to get a bit forgotten about in all the focus on women, he says.

“I would always, always tell men to seek help. There’s no shame. What I’ve learned from the whole fertility and IVF experience is that it’s a complete fluke that any of us are here.

Today we have lovely twins who are very much my children. They’re here because I don’t have any sperm and I was able to choose a different path,” he says.


More public awareness of the condition could help, says Dr Waterstone, who also suggests that parents, GPs, and paediatricians could be more aware of the need to watch for Klinefelter syndrome in males of a younger age.

“This condition is often undiagnosed,” he says, adding that it may not be on the radar of family doctors and paediatricians as much as it should be.

“This is also something for parents to be aware of, if, for example, they have a lanky guy in his teens who is not growing facial hair the way a teenage boy would normally do, and who isn’t excelling at sports because of muscle weakness.”

If a boy is spotted and diagnosed early, says Dr Waterstone, he could be put on a programme of testosterone which would help him physically in terms of his masculinity, muscle strength, and hair growth — although he emphasises, “this would not increase his sperm count”.

However, males diagnosed early in life could also potentially undergo sperm retrieval before they get older and their sperm count levels fall further.

“There are experts who feel that it might be possible to extract the sperm and freeze it for use later on. This surgically retrieved sperm may have higher numbers than when the man is older,” says Waterstone.

A highly experienced clinician, Dr Kennedy says Klinefelter syndrome is now very much on his radar as a fertility expert.

“I was not as aware of this condition, as I should have been when I started out. This is something I’ve learned, and I can only posit a guess that other people could also stand to learn more about it too,” he says.

However, he says, newer surgical techniques are becoming available which offer a higher chance of retrieving sperm from the testicles.

He says: “That is a positive step. There has never been a better time to have a diagnosis.”

*Not his real name

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