John Junior always knew ‘something wasn’t right’.
‘When I was younger, about seven or eight, I knew that I wasn’t like the normal kids in school,’ John tells Metro.co.uk. ‘I would look at the girls and hang around with them. They were more my thing. I felt like I wanted to be like them.’
As a child, John, now 32, began to hate their body, and endlessly searched online for answers.
‘I ended up telling my mum at ten that I felt like I was in the wrong body,’ John remembers, ‘that I shouldn’t be in this body. I felt different from everyone else.’
It wasn’t for two more years that John finally discovered the truth, when an operation was needed on their leg.
As they reported their symptoms, the doctor began to suspect John might have a rare condition called Klinefelter syndrome, also known as XXY syndrome, which results from someone who is otherwise genetically male being born with two or more X chromosomes.
What is Klinefliter syndrome?
Klinefelter’s Syndrome (KS) is a common congenital condition which is found in around 1 in 600 live male births and is caused by the presence of one or more additional sex chromosomes. Chromosomes are genetic material. Males typically have one X and one Y chromosome (XY) and females have two X chromosomes (XX). Klinefelter’s Syndrome is characterised by the presence of an additional chromosome (XXY).
KS is diagnosed by a genetic blood test which identifies any abnormalities in the karyotype i.e. the number, size and shape of the chromosomes.
– Klinefelter’s Syndrome Association
Common signs and symptoms include:
- Weak muscles and bones
- Slow motor development — taking longer than average to sit up, crawl and walk
- Delay in speaking
- Problems at birth, such as testicles that haven’t descended into the scrotum
- Taller than average stature
- Longer legs, shorter torso and broader hips compared with other boys
- Absent, delayed or incomplete puberty
- After puberty, less muscle and less facial and body hair compared with other teens
- Small, firm testicles
- Small penis
- Enlarged breast tissue (gynecomastia)
- Weak bones
- Low energy levels
- Tendency to be shy and sensitive
- Difficulty expressing thoughts and feelings or socialising
- Problems with reading, writing, spelling or maths
- Low sperm count or no sperm
- Low sex drive
- Decreased facial and body hair
- Increased belly fat
A blood test revealed those suspicions were correct – John had been unknowingly living with XXY syndrome, which meant they were born infertile, had small, poorly functioning testicles, a low sex drive, and a higher risk of breast cancer.
Even after finally getting an answer for why they felt different, John had to spend years trying to ‘work out’ who they were.
After delaying puberty until their later teens, John now identifies as gender-fluid and uses they/them pronouns.
‘The only time people usually find out that they have the condition is when they’re trying for a baby,’ they say.
‘I’ve been told many tend to think they just can’t have children — they don’t actually look into it further.
‘Our characteristics are a little bit different. Some don’t have all of the symptoms; some have all of them.
‘I have small testes, I’m tall, I can’t produce sperm, I’ve got speech and language issues and dyslexia.
‘For years, I’ve been working myself out. I’ve got clubfoot and one leg shorter than the other.’
John, from Cheshire, is grateful to have found a community of support online, which helped them to understand they are not alone.
John was ashamed of the condition for a long time, and tried to forget about it because they were in ‘denial’.
‘I didn’t want to tell people that I couldn’t have kids,’ they say. ‘When I got with girls, I was ashamed. I was embarrassed. I didn’t start puberty until I was 15.
‘Some of the women I’ve been with have been okay about me not being able to have kids, others have been like “see you later”. I’ve been single for four years now.’
It was within that online community that John discovered gender fluidity – and instantly connected.
John says: ‘People with the syndrome are more likely to be gender fluid or non-binary.
‘The reason I identify as gender-fluid is because I don’t feel like a man or a woman. I feel like I’m in between. For years, I didn’t know what the word was.
‘I remember reading about it and thinking, f*** me, this is me. I felt like I had closure.’
John now talks openly about Klinefelter syndrome in the hopes of raising awareness of the condition – especially the impact of multiple treatments.
‘I’ve tried so much medication,’ they say. ‘Testosterone injections, patches. I was a very angry person as a child.
‘People thought I was just naughty, but I was on all these drugs at the time.
‘Testosterone does have its side effects.
‘Everything that’s happened to me — from being a child, to a teenager, to now — the trauma, I’ve put it all down to the syndrome.
‘It’s made my mental health so much worse.’
People with Klinefelter syndrome are at a higher risk of anxiety and depression, as well as type 2 diabetes, osteoporosis, cardiovascular disease and blood clots, autoimmune disorders such as lupus, an underactive thyroid gland and male breast cancer — something Johnny does regular breast checks for.
Luckily, John has great support from their mum, but they have struggled to get help from health professionals who rarely specialise in the condition.
John that by sharing their story, they will challenge misconceptions of XXY syndrome and improve access to the right treatment.
‘I found people on Facebook groups and on Instagram,’ they tell us. ‘But not a lot of people talk about it, which is a shame.
‘I think there’s a lot of stigma around the condition. That’s why you won’t see much about it.’
‘I’ve had help from genetic counsellors in the past, but nothing since.
‘I wish other people would read about my condition. It doesn’t take long.
‘A lot of us who are adults can act childish. We can’t help it. We’re not fully developed.
‘If someone was to come up and ask me about my condition, I’d tell them, a man has an X and a Y, and a woman has two X’s. I have an extra X.
‘I’m a superhuman. An extra X. That’s what I say.’
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