The Hidden Syndrome Leaving Aussie Men Without Sperm

*Anthony Lopes found out he had Klinefelter syndrome earlier this year during the IVF process with his wife Marie.

The Melbourne couple were doing IVF in a desperate attempt to have a baby. After trying to conceive naturally "for ages", Anthony, 39, and Marie decided to get tested at the same time. Anthony's sperm analysis came back at zero.

"When my analysis came out as zero, we saw a fertility nurse. As soon as she saw my exams, she ran tests to see if I was XXY. And I was," he told 10 daily.

Klinefelter syndrome (KS), also known as XXY, is a common genetic condition that affects roughly one in 500 Australian men but at least two-thirds never receive a diagnosis, according to The Medical Journal of Australia.

READ MORE: Fertility Clinic Offers 'Pay As You Go' Egg Freezing

Males with Klinefelter syndrome have an additional X chromosome, which causes infertility and low testosterone. Other symptoms can include breast enlargement, low libido, learning difficulties, depression, fatigue and anxiety.

Most males are found to have XXY as adolescents and adults, with less than 10 percent diagnosed as infants or young boys. After the "shock" subsided from his diagnosis, Anthony felt "everything had finally fallen into place".

"I knew I was slower than others and things were always hard to understand. It was also hard to explain myself. I finally understood myself better.

"The symptoms women go through every month with PMS, I get daily: hot and cold sweats, mood changes, muscle pain. They’re getting a lot worse because my testosterone levels have dropped dramatically," Anthony said.

Incidences of Klinefelter syndrome dramatically outnumber other genetic conditions in Australia. Image: The Medical Journal Of Australia

The overwhelming majority of Klinefelter patients have azoospermia, meaning they produce little to no sperm and cannot release or make sperm naturally.

For males with azoospermia, sperm is best extracted through microsurgical testicular sperm extraction, a.k.a. MicroTESE. The goals of MicroTESE are to obtain quality sperm, get enough sperm to fertilise a woman's egg, and minimise damage to reproductive organs.

After being diagnosed with Klinefelter syndrome in January, Anthony was referred to Melbourne urologist Mr Darren Katz who is preparing Anthony for his MicroTESE surgery later this year.

The procedure, which can take up to four hours and only be performed once, is a "life-changer" for guys like Anthony, Katz said.

Klinefelter symptoms can include breast enlargement, low libido, learning difficulties, depression, fatigue and anxiety. Image: Getty

"MicroTESE is a really underused procedure for Klinefelters patients in Australia. The chances of finding sperm are probably 50 percent or more, so it’s quite good," Katz told 10 daily.

He said a vast majority of babies born after the procedure are healthy, with no features of Klinefelter syndrome.

If good sperm can't be extracted during his MicroTESE procedure to inject into his wife's eggs, Anthony has "made peace" with the couple's next steps.

"If it doesn’t work, we will go with a sperm donor. I’ve made peace with that. I could have had testicular cancer, it could have been much worse" he said.

Men with Klinefelter can be prescribed Testosterone Replacement Therapy (TRT) to help grow their testosterone levels. While Anthony is "so eager" to start TRT, he has to wait until after his MicroTESE is done.

Testosterone Replacement Therapy (TRT) can be given through implants, injections, patches and gels. Image: Getty

This is because when men are given artificial testosterone, "it shuts down both functions of the testicle: the sperm and testosterone function", Katz said.

"For Klinefelter patients, you might think: let’s just replace their testosterone and sort out sperm function another time. That's a problem. You’ll probably ruin any chance of having sperm, at least until you stop the testosterone."

There's also a decision to be made for when a male with KS should undergo a MicroTESE: during puberty, prior to TRT, or when he wants to start a family.

Factors to consider include discussing family planning with a male teenager can be difficult, fertility declines with age and fresh versus frozen sperm.

READ MORE: A Sperm Bank In Space Could Help Establish Mars Colonies

Klinefelter syndrome usually isn't diagnosed until puberty when a male's testicles fail to grow and they may start noticing other symptoms.

Few cases are diagnosed in babies and children because they are "hidden in plain sight," Klinefelter Syndrome Australia founder Emily Wadsworth said.

“Symptoms aren’t enough for GPs to think there is cause for concern. They sit in a grey area where there’s not enough to raise alarm, but parents know there are areas of struggle for their little boys. So the majority only get diagnosed during puberty or the fertility process," Wadsworth told 10 daily.

To find out if a child has Klinefelter syndrome, a doctor may ask questions about his past health, do a physical exam, and order a chromosome test.

If Klinefelter is suspected in adult men, lab tests like the semen analysis Anthony underwent during IVF may be done, plus a chromosome test.

In the spermatology lab during diagnosis stage, studying spermatic mobility. Image: BSIP/Universal Images Group via Getty

A non-invasive prenatal test (NIPT) screens for genetic conditions like Klinefelter and Down syndrome and is done in the first trimester of pregnancy.

NIPT is not available for rebate under Medicare or private health insurance and can cost between $400 and $1,000.

Anthony said his doctor missed "signs" of Klinefelter during a visit four years ago, when he'd been going to the gym "religiously" but wasn't building muscle.

"I took a blood test for my testosterone levels. They came back 9.7 -- guys my age should be between 12 and 25. My GP said it was probably due to my weight and didn't look into it further.

"He didn't once suggest taking a test to check my chromosomes. I'd love for guys to be able to visit their doctor and have all of them know to do that."

"We’re certainly not diagnosing most patients, at least not when we probably should be," Mr Katz said. "Most of them are being diagnosed only when there’s a problem like Anthony’s, so it’s really just the tip of the iceberg."

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*Names have been changed