What makes a man?

When it comes to genetics, the general rule for men is that the more testosterone you have coursing through your body, the more stereotypically ‘masculine’ traits you develop as you grow up. But, for some men with a rarely diagnosed chromosomal condition, the construction of their own masculinity isn’t that simple…

I am the poster boy for testosterone: my beard sprouted at about the age of 14; my chest is a Herculean rug of fur; and while I’m no Dwayne ‘The Rock’ Johnson, my natural body muscle means I would have been well-suited to  life as a railway-building navvy.

I’ve always been unashamedly proud of these physical attributes; these outward expressions of my testosterone that society reads as stereotypically ‘manly’. However, when a close friend of mine revealed that he’d been diagnosed with a medical condition that has meant he hasn’t developed these sort of physical attributes (not to mention some biological ones that can’t be seen), I had to ask myself what these physical markers of masculinity even mean.

Functionally, the stereotypes of masculinity are just a consequence of testosterone, the male body’s primary sex chemical, which mainly produces sperm, but also shapes our secondary sexual characteristics, including the features that have, in historic evolutionary terms, helped us to get laid. These are attributes like those I possess, although, to be honest, it doesn’t seem to have helped me on the dating scene.

Separating biological sex from gender, all of these attributes stem from one biological moment at your conception, when the sperm and egg that go on to make you combine and decide whether you’ll be born as a man made up of XY chromosomes or a woman made up of XX chromosomes. While your chromosome combination doesn’t actively shape your ‘manliness’, it does dictate how yours will develop – in this case, primarily through the production of testosterone. The amount produced by our glands (scientifically called ‘gonads’) varies from man to man, but usually, this is between 280 and 1,100 nanograms per decilitre (ng/dL). Women produce testosterone, too, just in much lower quantities; normal levels are between 15 and 70 ng/dL.

The clearest link between men, manliness and testosterone isn’t the role it plays during our everyday lives, but rather the effect it had on us while we were growing up. According to studies at Harvard Medical School, low testosterone in young boys will result in underdevelopment during puberty, including the size of the penis and testes, deepening of the voice, muscle strength and size, the appearance of facial and pubic hair, libido, and the production of sperm. In short, we’ve been led to believe that it’s the magic, natural potion used to turn boys into men.

Many think of testosterone as the liquid embodiment of toxic masculinity – but these don’t go hand in hand

About four months ago, I met my friend of over a decade, Henry ‘Mitch’ Mitchell, for dinner with our significant others. Over a glass of wine, he shared with us that he’d been diagnosed with a rare medical condition, which means he was born with an extra X chromosome, making him XXY.

‘It doesn’t make me transgender,’ he explained. ‘I’m a man and I’ve never felt like anything else.’

This condition, he told me, is called Klinefelter Syndrome and it affects more than 1 in 600 men in the UK, making it one of the most common genetic conditions in the country. But it’s almost unheard of because it is very rarely diagnosed.

It’s non-hereditary and caused when boys are born with extra X chromosomes. Simply put, there are two types of chromosome, X and Y, and the combination you are given at conception determines your genetic sex: as said before, a woman has two Xs and a man usually has an X and a Y. Mitch has one of the mildest variations of the syndrome – one extra X chromosome, so XXY – however, other patients can have multiple extra X chromosomes, making them XXXXY or even XXXXXXXY. The more X chromosomes, the more severe the symptoms.

While it’s a relatively common genetic condition, less than one in four men are ever diagnosed with Klinefelter’s because the symptoms can be hard to spot for anyone but a specialist. As Mitch explains: ‘Growing up, at about 17, I was very conscious about the size of my balls.’ He visited a doctor in his Shropshire hometown who told him, ‘so long as they are doing what they’re supposed to be doing, then it shouldn’t matter’, so he tried to put it to the back of his mind.

In actual fact, their size was the clearest indication that they probably weren’t doing what they were supposed to – something that is clear to specialists such as Dr Tet Yap, the doctor who finally diagnosed Mitch earlier this year in his UK-first Klinefelter Syndrome-specific clinic.

Mitch had been referred to Dr Yap after he started to suffer from symptoms that he describes as a ‘ball ache’. ‘It went on for a couple of weeks,’ Mitch says, ‘not a kick-in-the-nuts pain, but rather the kind of boring, dull pain that constantly reminds you that you have balls.’

Although this ailment was never actually diagnosed – it was presumed to be a consequence of his Klinefelter’s – he was eventually sent to Dr Yap’s specialist clinic in London’s Guy’s and St Thomas’ Hospital. Mitch couldn’t have predicted what he was about to be told.

‘He was already presenting some very clear symptoms of the condition,’ Dr Yap says, ‘he had very little muscle development, facial hair and his testicles were on the smaller side,’ he adds delicately. For clarity, I ask, how small is small? ‘Usually, it’s less than 16mm. So… Brussels sprouts.’

The problem with men being medically ‘less manly’ is that it can have serious biological consequences. In the case of Klinefelter’s, the biggest problem is that the lack of testosterone means that your balls haven’t developed to produce sperm effectively, so infertility is a real issue.

‘Most of the time you have to go for IVF,’ says Dr Yap. Luckily, Mitch’s balls delivered when he underwent the MicroTESE ‘sperm-hunting’ procedure. ‘They found three sperm,’ Mitch tells me with an astonished look still rising on his face six months after finding out the results from his surgery.

Low testosterone can affect the male body mentally, too. ‘I always suffered from really low self-esteem, and I could never attribute it to anything – I had a great life, I had nothing to really feel low about,’ Mitch explains. ‘And I wasn’t assertive, I couldn’t get angry. People always thought I was the joker in the group who couldn’t take anything seriously.

‘When I got the diagnosis, it made sense. Having low confidence and not being assertive is exactly what testosterone should have been doing for me.’

Many like to think of testosterone as the liquid embodiment of toxic masculinity – the cause of bullishness, strength and the cult of Alpha Male dominance. But testosterone and toxic masculinity do not go hand in hand. Men behaving badly can’t, and shouldn’t, be attributed to too much testosterone – whatever that means. Likewise, as my friend Mitch and his fellow Klinefelter’s sufferers prove, too little testosterone doesn’t make being XXY any less manly.

‘Even after the diagnosis, I’ve never wondered about my masculinity. I am a man, that’s what I am, I’m just taking testosterone to give my body what it needs.’

In our society, drenched in pictures of men’s chiseled bodies and coiffed beards, many men aspire to enhance their aesthetic masculinity to fit in with what a potential mate might deem ‘desirable’ or ‘powerful’ or other stereotypically ‘macho’ characteristics. Mitch isn’t changing for the sake of perceived manliness, he is getting treatment. Extra testosterone for him isn’t about how others see him, but about giving his body what it needs to be healthy – although he has begun to sprout a beard for the first time, which he is very proud of. We all stand to learn from his example. So much of the way we, as men, view our own physical and mental health is bound up in the tropes of masculinity that we have been indoctrinated into from childhood.

Thanks to my friend Mitch’s bravery in discussing his condition, I have a whole new appreciation for just how irrelevant my own stereotypical manliness actually is.

Henry Tobias-Jones is Features Director of ES Magazine