Men Born With An Extra X Chromosome: Coping With Infertility, Stigma And Coming Out

The nurse told him in a rather insincere voice, “oh is that all you can produce?” She was talking about Joe’s volume of ejaculate.

“I had no reason to suspect that it (the volume) was wrong,” Joe told the Huffington Post UK. “Unless you’ve seen another man ejaculate, how do you know what is the right amount?”

Joe is 43-years-old and he works for the emergency services in the south east of England. He has been diagnosed with a chromosomal condition called Klinefelter's Syndrome (KS).

Due to how the condition is portrayed online, Joe has specifically asked to keep his identity anonymous.

“Most people haven’t got a clue about what I am talking about. I mean no one has really heard of KS, some people can’t even say it. Some people think all KS men are intersex, but I personally disagree.”

The mislabelling of KS sufferers however appears to be an easy mistake to make given the underlying biology of the condition.

Biological maleness is defined by one X and Y chromosome while biological females are born with two X chromosomes.

However, KS sufferers break all of the above rules and are born with two X chromosomes and one Y chromosome - XXY - and the outward effect of this inner genetic change can be life-changing for most.

Joe and his wife of 10 years went through a painful break up after they learnt of his diagnosis.

“I had been married for ten years and been together for 20 years,” he explained.“After that period of time you know someone pretty well but we had a shock (Joe’s diagnosis) and she had a bit of a breakdown.”

Joe is infertile - a symptom of the extra X chromosome.

“People with KS are inclined not to broadcast that fact because they are infertile,” Alison Bridges, Chair Trustee of Klinefelter's Syndrome Association told HuffPost. "To many men, this reduces their sense of maleness.”

Alison’s only son, Boyd, has KS. He was diagnosed when he was three years old.

“ I was in a public call box, in Spain when I found out and I was given a lot of false information” she said.

Boyd who is 33-years-old now, has learning difficulties which is linked to his extra X chromosome.

“He has always known that there has been something wrong with his chromosomes, or building blocks as we refer to them,” Alison explained.

The building blocks she speaks of are formed of genes, which are essentially packages of DNA or more simply put, biological instruction manuals that our bodies follow.

These make or break sets of instructions determine a wide range of factors including whether an embryo develops into a biological male or female.

On the Y building block is the SRY gene, which produces male sex hormones.

Essentially, we all start life as a female until this gene is switched on. Once on, the body produces a protein dubbed “the sex-determining region Y protein" that encourages the development of testes.

Geneticist, Chris Tyler-Smith of the Sanger Institute, has an apt analogy for Y chromosome’s role.

“It’s like a surname in our western society, typically passed on from father to son,” he told HuffPost.

For men with KS, the Y factor still maintains this natural role and despite having two X factors to contend with the Y chromosome is still dominant.

According to Chris, the condition has very mild phenotypic (physical) manifestations.

Indeed the extent to which the chromosomal condition plays out into the natural world varies greatly from sufferer to sufferer.

“I am tall, most people with KS are tall. I have a deep voice,” Joe said confidently as he tried to paint a picture of what a KS sufferer looks like.

In addition to the seen physical factors, there are also a few potentially unseen features including small testicles that the extra X factor is responsible for.

“But unless you’ve spent time looking at other men’s testicles, how do you know what the right size is,” Joe explained. “Now I know, but back then I didn’t think anything was wrong.”

For others however, the effects of the condition are more pronounced and Joe is painfully aware of the differences.

"Iwent to see a friend,” he said, “who has a male name, appears to be male but he says he doesn’t feel like a man. But he doesn’t want to be a woman either. Many men with that element of the condition live a very difficult life. They are not compliant with normal society and some of them are unemployed, have no sexual desire and don’t have relationships. For me personally, I have always enjoyed sex but since taking testosterone my libido has increased extraordinarily.”

KS affects one in 600 men and it happens because of a random error that occurs when genetic material in either the egg or the sperm splits unevenly.

Most sufferers are shy about coming out to their colleagues, friends or employers because as Joe and Alison described, there is still a stigma attached to having that extra X factor.

“Mentally, I may be more sensitive, but I don’t have many of the features the Internet says I do.”

These features include having a pear-shaped body and breasts.

He never had to deal with those physical traits. The only noticeable characteristic, that sets him apart from his XY counterparts is his height – he is around six foot.

Alison mentioned that Boyd also has similar physical features, with long legs and slightly rounder hips being the extent of the XXY influence.

However, she added some KS men can still have a very low self esteem and experience unexplainable fatigue. "They can be very emotional and under stress they find it very difficult to cope."

“I work in the emergency services," Joe said "and we have a very close culture and I have told some of my close managerial colleagues.”

When asked how he feels about keeping his condition under cover, he responded: “There is a chance that people could find out that I have it and there is a chance that I could be exposed but that still requires them to ask me.”

For now, he is content to keep his extra X factor a secret. That's not to say however, that he doesn't have a strong community of fellow KS men around him.

Joe uses Facebook to connect men around the world who are trying to come to terms with the condition.

His network includes everyone from worried parents who have Googled the condition and fear the worst for the unborn baby boy, to men who are too shy to tell anyone.

"We are generally very self-aware," he explained. "You don't want people chipping away at you and that's the barrier to coming out."

Currently 75 percent of men are never diagnosed and many only find out when they are trying to have children.

Part of the problem lies with how much society, including the medical community, knows about the syndrome.

When Joe was asked to rate our knowledge on a scale of one to ten -- one being not knowing anything -- he gave society an abysmal score of one and the medical profession a more worrying rating of three.

His analysis is to say the least, quite troubling.

Joe's story is not a rare one. Many KS sufferers have their own experiences to share and it is time society listened without judgement.

If you've been diagnosed with KS, please feel free to get in touch with Klinefelter's Syndrome Association UK via their Facebook page or calling the national helpline on 0300 111 47 48.

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