Explain XXY: what it’s like to be born male with an extra X chromosome
Aotearoa has only 93 known cases of men with XXY chromosomes, but it’s likely there are many more who don’t know they’re affected. Reporting by Melanie Earley.
Mike Coker didn’t expect to be told he couldn’t have kids.
He was in his 20s when he and his wife decided to start a family – they sought medical assistance when they were unable to conceive naturally.
“The doctor told me I was an XXY man and if my wife and I wanted to have kids, we had to find a donor,” Coker says.
* ‘Go ahead, try as many identities as you want’: How reclaiming their gender identity made these Kiwis happy
* The challenges of being non-binary in a closed-minded society
* Shame, secrecy and medical distrust: what it’s like to be intersex in Aotearoa
A rare condition
XXY is commonly referred to as Klinefelter’s syndrome and is estimated to occur in 1 in 600 men.
Rather than the usual 46 chromosome pattern, with an X and a Y chromosome, there is an extra X chromosome, resulting in a genetic signature of 47,XXY.
Males born XXY may have low testosterone and reduced muscle mass, as well as less body and facial hair. Most men with this condition also produce little or no sperm.
There are 93 known cases in New Zealand, but there are likely to be many more who will never be diagnosed or only find out when trying to start a family.
Coker says that when he was told he was XXY, it was up to him to find out what that meant, and searching for answers online was an “absolute minefield”.
“When I looked at the list of symptoms or things it can cause I really felt ashamed of the medical profession, the information was so outdated and offensive.
“When reading about the characteristics I should have, I was trying to match who I was as a person to the symptoms written online. It made me wonder who I was.
Coker says most medical information online pointed to a few key things that went against the “typical” male physique.
He describes men with XXY or Klinefelter’s syndrome as potentially having a small penis, lower intelligence, enlarged breast tissue, pear-shaped bodies, psychological issues, tall stature, and poor hair growth.
“As far as I can tell from looking at myself, that’s bullshit,” Coker says. “There seems to be a disconnect between medical claims and reality.”
“Some XXYs are gay, some are straight, some fall somewhere in between, just like the rest of the population. There are some XXYers with learning disabilities and some without. As far as I See, it’s just the natural human condition.
While men who are XXY may have varying degrees of symptom severity, the only thing that has changed for Coker is knowing that he is infertile and has slightly lowered testosterone levels.
Finding out he was infertile didn’t stop Coker from becoming a father – he and his wife have since had twin sons through IVF.
Coker says being XXY is still very misunderstood, and in the past friends have asked him if that means he has female genitals.
“It’s ridiculous, I don’t have a vagina and I think it shows how naive some people really are about the human body.
“Being XXY shouldn’t be stigmatized – the majority of people don’t know it exists, but when I tell people they go and look it up online and are often shocked at what the internet is telling them.”
A shock to the system
Timaru’s Samuel Pierce found out he was XXY in his twenties after he completely lost his libido.
Pierce says he went to his GP and after undergoing tests he was told he was an XXY man.
“I hopped on Google the same day to find out what it actually meant, and it was the worst decision of my life.
“It was such a shock to the system to read all about it, when that same morning I had never even heard of it before.”
Pierce says he was “devastated” after finding out he was XXY, but over time and being able to meet other people who had it too, he started to feel better.
Pierce now gives himself testosterone injections at home every two weeks.
He will need the injections for the rest of his life and says that without them he can become gloomy and depressed.
“I’ve felt different in some way all my life – I’ve never had facial hair and I had very little body hair, and although I was a very fit person, I have always struggled to gain muscle mass.
“Since I started taking testosterone, I have found that my mental state and my physical state have changed so much.”
An XXY support website
Elizabeth Poutu from Auckland’s Te Atatū Peninsula has found herself immersed in the world of XXY since her 19-year-old son was diagnosed when he was 11.
“When I was pregnant with my son, the doctors told me he was going to be born with Down syndrome, but when he was born he wasn’t.
‘At the age of four he was diagnosed with autism and low muscle tone, but it wasn’t until the age of seven that his teachers noticed he was struggling to get up . We did loads of tests and at one point they thought he had muscular dystrophy.
But when Poutu’s son was 11, he was finally diagnosed with XXY chromosomes and Klinefelter syndrome.
While Poutu says his son suffers from high anxiety and low muscle tone, he is very expressive through art and has been on testosterone therapy since his diagnosis.
“After finding out, we had to do a lot of research online about what it all meant, which wasn’t helpful. I went down a rabbit hole and began to wonder if he would ever be able to live a normal life.
But Poutu says that when his son reached adulthood, he was recently able to move on his own for the first time.
Due to the lack of supportive information that Coker, Pierce, and Poutu could all find online about being XXY, they decided to create the XXY.org.nz website.
Poutu says the website is a gathering place and the group organizes social gatherings for parents and caregivers of people with XXY as well as the men themselves.
Coker says anyone who thinks they are XXY should talk to their GP and ask for a karyotype blood test.
For anyone who’s recently found out they’re XXY, Coker says it’s important for them to reach out to others.
“You’ll find out pretty quickly that we’re a normal group of people. I just wish people would stop calling us abnormal, especially the medical community.
Pierce credits reaching out to others in similar situations has also helped him, as he struggled to talk about it with his family at first.
“It may affect us all differently, but I think the best thing to do is talk about it with others who will understand.”