Good to see The Chromodiversity Clinic making headway and reaching out to the people most impacted by genetic differences. As someone who has written extensively about my own experience, I can honestly say when opportunities arise that afford us the opportunity to reach out to an audience beyond social media chat rooms, we should grasp them with both hands. The hope is that our life experiences will make someone else’s journey to acceptance that little bit easier to manage.
In this podcast, the host speaks with Alfred Jonker, the President of the Dutch Klinefelter Association and a visionary in his approach to supporting people with common chromosomal differences.
In this first episode of two, you’ll hear the story of how he found out about his own Extra X, the challenges he faced and coping mechanisms he discovered growing up with a chromosome diversity, and why he believes early detection is the key to unlocking better futures.
About 2% of people are diagnosed as intersex, but there is a lack of research on the experiences of intersex people, especially in the genetic counselling field. Podcast Subcommittee members Liann Jimmons and Jessica Dronen interview genetic counsellors Darius Haghighat, Kayla Horowitz, and Rebecca Freeman about their research and advocacy for the intersex community.
This an excellent podcast from the National Society of Genetic Counselors (NSGC), which is a leading voice, authority and advocate for the genetic counselling profession in America. The podcast is based on the research findings of Darius Haghighat, who, earlier on in the year, recruited a vast and varied selection of Intersex people from throughout the world.
Typical of an XXY diagnosis is the recommendation that we would benefit from speaking with a genetic counsellor, but we are never referred to one. Listen, learn and advocate for that right.
If you are XXY, it’s essential to realise your uniqueness and know what works for others may not work for you. To that end, if you are seeking the intervention of testosterone, it’s important you realise the most significant impact it will have is that it will cause your body to virilise, which may or may not be in your best interest. For this reason, we suggest working through any concerning issues you may have with a Psychologist who will assist in making a decision that’s right for you.
For those who have affirmed their gender identity and received the green light to proceed with treatment, it’s vital to undertake pre-treatment blood tests that will serve as a baseline for all future tests. Significant tests are estradiol, testosterone, luteinising hormone, and follicle-stimulating hormone. One would expect the treating doctor to understand XXY and realise there is no gold standard approach, that we are all different, and when compared to XY males, we have our own natural (endogenous) supply of testosterone which can be high or low. Knowing your baseline is important because too much testosterone may cause physical and psychological side effects, whereas too little will not achieve the desired effect.
The trouble with most forms of exogenous testosterone is they are not Bio-Identical (do not match what the body naturally produces). For this reason, annual physicals are essential, allowing your doctor to monitor your health closely. Too much testosterone can thicken your blood and increase haematocrit levels (red blood cells). In extreme cases, this is called Polycythemia. For older XXYs, too much testosterone can enlarge the prostate (BPH – benign prostate hyperplasia). Annual prostate digital exams are essential from forty-five years of age onwards.
XXY’s who are raised male and identify their gender as something else often seek alternative sex hormones but find conventional medical practices reluctant to prescribe them. This is a clear sign that doctors are treating a disease of the testes, not the overall individual. These people do not view their differences as a disease but rather a celebrated part of their individuality.
All too often, their care falls upon Gender Clinics who are willing to help but seldom understand our issues which are atypical when compared to Transgendered. The vast majority are not seeking gender affirmation surgeries, only access to appropriate pharmacological care that would allow them to be themselves. Unlike XY Males who also avail of such clinics, it’s highly unlikely XXYs will require a testosterone inhibitor unless the individual was mosaic and their natural testosterone was high from the outset. The plight of these people is exacerbated further by XXY/Klinefelter Support Organisations, who see them as a threat to the status quo, and inform their members that people who come to reject exogenous testosterone and masculinity are atypical of an XXY experience. For this reason, those who come to reject the gold standard masculinity approach are never included in research, which invariably leads to biased outcomes.
This article was originally published by the Australian Broadcasting Cooperation (ABC). We have reposted it here in its entirety to allow access for non-Australians and also to preserve information specific to the community.
When Portuguese archaeologists unearthed the skeleton of a remarkably tall man who lived more than 1,000 years ago, they assumed he was too tall to be a local.
Standing around 1.8 metres, he would have been around a head taller than other adults of the time.
But DNA extracted from his bones revealed not only was he from the region, he was also born with a genetic condition known as Klinefelter syndrome.
Those with the condition are born with an extra X chromosome and tend to be taller than average.
It affects one in 600male births today.
The diagnosis by researchers in Portugal and Australia was reported in The Lancet.
João Teixeira, ancient DNA and evolutionary biologist at the Australian National University and co-author of the study, said it was the oldest confirmed case of Klinefelter syndrome so far.
Researchers analysed the DNA and bones of a 1,000-year-old skeleton excavated from modern-day Portugal
They found the individual had a genetic condition which meant they were born with an extra X chromosome
The diagnosis explains some of the skeleton’s features, such as its unusual height and wide pelvis
“We’re interested in developing this [technique] further and applying it to other archaeological specimens to look not only for Klinefelter syndrome cases, but also other [conditions like it].
“This could help give us an idea about the frequency of these genetic conditions through time.”
Site of historical importance
The statuesque skeleton was one of a few dozen excavated from the mountainous medieval archaeological site of Torre Velha in north-eastern Portugal, between 2012 and 2015.
In Roman times, it was the site of a settlement that sat at the junction of roads connecting cities across the Iberian Peninsula.
“We’re interested in looking at this place because of all the different peoples that inhabited it, and to understand the different migrations of people, from the Romans to the Germanic tribes to the establishment of Portugal,” Dr Teixeira said.
When people’s remains were discovered, they were carbon-dated to find out when they died, and their DNA extracted and sequenced.
DNA analysis on ancient specimens isn’t always possible. Long strands of DNA, which are twisted up as chromosomes in our cells, tend to fall apart and get chopped up by bacteria after we die.
Sometimes there are simply not enough long strands left to elicit much meaningful information.
Still, DNA that’s thousands of years old can yield a wealth of information about a person, such as their ancestry and biological sex.
Biological sex is determined by our sex chromosomes, which come in two types: X and Y. We usually inherit an X from our mother or an X or Y from our father.
Genetic females are typically XX while males are XY.
When Dr Teixeira and his colleagues scrutinised DNA from the tallest Torre Velha skeleton, which was thought male from the shape of the bones, they found something unexpected.
“The amount of DNA fragments mapping to the X chromosome was compatible with a female, but then we had as much mapping to the Y as you have for males,” Dr Teixeira said.
“We were intrigued.”
Statistically, the individual was all but confirmed to be XXY — Klinefelter syndrome. This happens when an egg or a sperm contains an extra X chromosome.
And when Dr Teixeira’s colleagues closely examined the skeleton, they could see signs of the condition in the bones too.
First up, the individual’s height stood out, Dr Teixeira said, “and 1,000 years ago, 1.8m was seriously tall”.
The skeleton also had other potential Klinefelter symptoms such as broader-than-usual hips, and teeth that were worn more on one side than the other, perhaps because the person had an underbite.
The bigger picture
Pairing genetic findings with skeletal evidence strengthens the study’s findings, according to Sally Wasef, who works with ancient DNA at Queensland University of Technology and was not involved with the work.
“It’s really interesting that you can tell, from ancient DNA, the existence or not of a medical condition,” Dr Wasef said.
“But without [archaeological evidence], you’re only looking at a single piece of a puzzle, and trying to work out what the whole picture looks like.”
Dr Teixeira said the technique could be used to glean information about extra or missing chromosomes in situations where DNA samples were degraded, such as forensic investigations.
It could also be used to look for genetic conditions such as Down syndrome, which is caused by the presence of an extra copy of chromosome 21, through human history.
And as for how far back they could go?
That depends on the quality of the DNA. If a specimen is left undisturbed in the frozen Arctic, its DNA will be in much better shape than another in the hot, humid tropics.
“But if you find a really well-preserved specimen from 30,000 years ago, I think you could do it,” Dr Teixeira said.
The XXY Project offer our sincere condolences to Gary and Paula Glissman on the passing of their son Michael who was born XXY and struggled to find his place in the world. His father, Gary, has long been associated with AXYS, holding many positions before gravitating to Chairperson, a position he held for many years before retiring in 2021. In that role, Gary often spoke of his son’s struggles and how, following a late diagnosis and subsequent access to Testosterone (the standard treatment of care), Michael was pulling his life back into line, and for a while then, his future had been a lot more positive, and things were looking up.
Rest in peace, Michael; this XXY business will bother you no more. Obituary
Kudos to Tanya, Maria, Mel and Anthony at DCU for finalising and publishing this invaluable report in such unprecedented times. It is hoped the finding will lay the groundwork to improve the lived experiences of those not yet diagnosed and all others who have gone unnoticed or have not been able to find resources and appropriate medical care for their particular needs.
This study is the first of its kind in Ireland that sheds light on what it means to be intersex/born with a variation in one’s sex characteristics. No data set like this previously existed that would facilitate our thinking about how to interrogate aspects of Irish life and society that adversely affect the lives of those born with variations in their sex characteristics. The findings demonstrate that intersex people/those born with VSC are a hidden, vulnerable and extraordinarily diverse and resilient group.
The interview participants are all over forty and their stories document lived experiences of struggling to understand who they are, negative experiences of childhood healthcare, trauma, and attempts at advocacy as they navigate Irish officialdom through health, education and life more generally. In many incidences, the law is not on their side as they seek meaningful and holistic care that is not delivered through rigid adherence to the male-female binary way of thinking about bodies or as they try to learn about themselves in order to assemble a coherent self-concept. There is much room for improvement in terms of health, education and law and the survey participants attest to this also.
There are many types of epilepsy, a brain disorder that causes recurrent seizures or periods of altered behaviours or sensations. Around one per cent of the world’s population is thought to be impacted, or as many as 70 million people. In epilepsy, the electrical signals transmitted through neurons in the brain are disrupted. There are some treatments for the disorder, but as many as one-third of cases don’t respond to current therapies.
Scientists have now found a new approach for treating epilepsy that focuses on correcting abnormalities in the blood-brain barrier, which have been associated with epilepsy. The findings have been reported in Nature Communications.
Brain cells use a lot more energy compared to most other cells types in the body. A network of capillaries called the blood-brain barrier (BBB) provides those cells with the nutrients they need, while carefully protecting the brain. The BBB is so extensive, that each brain cell seems to be fed by its own capillary. But when that network of blood vessels becomes disrupted and its integrity is impaired, seizures may occur.
This research has suggested that if the lost integrity can be restored in the BBB, seizures would be prevented. If additional research confirms these findings, it could lead to treatments for epilepsy patients that don’t respond to current drug options, said senior study author Dr. Matthew Campbell, an Associate Professor at Trinity College Dublin. “This work represents one of the first conclusive studies that pinpoint a key feature of seizures that has, to date, not been studied in great molecular detail.”
A chance for those of you with a Variation of Sex Development to participate in research. The author is focussing on those with Turner’s and Klinefelter’s Syndrome and would appreciate your input.
From the Author
I’m a student currently undertaking a research project entitled “To What Extent do Sex Chromosome Variations Cause Mental Health Issues?”. I’m specifically focussing on Turners and Klinefelter’s syndrome. I thought it would be good to include some perspectives from those with sex chromosome variations to make my research more accurate, so if you have a spare minute please could you fill out my research survey by clicking this link. It shouldn’t take very long and I would greatly appreciate it! Thank you.
For anyone who has ever wondered why 47 XXY/Klinefelter research is biased in favour of masculinity, testosterone and fertility treatments, then look no further than this revelation published in The Journal of General Internal Medicine.
One in four Australian medical researchers fails to declare important conflicts of interest in medical trials, such as payments from big pharma companies, a new study claims.
Big pharma money has frequently been shown to influence trials – making them more likely to find what the companies want – but science continues to rely on an honour system by asking researchers to declare their conflicts of interest.
The researchers cross-checked drug company payments made to researchers, available on the Medicines Australia database, with the authors’ self-reported conflicts.
It found that of 323 Australian authors listed in the trials, one quarter had at least one “missing or incomplete conflict of interest declaration”.
Bond University researcher Dr Ray Moynihan, who studies the link between money and medicine, said the research showed a “lack of rigour from the journals and authors that these things aren’t being declared”.
“One of the fundamental problems for medicine and healthcare is that so much of science is funded by companies who have a vested interest in the outcome of the studies,” he said.
AADPA is excited to release the newly developed ‘Talking about ADHD’ guide. The guide was developed in conjunction with Neurodevelopment Australia and has been endorsed by the ADHD Foundation, ADHD Australia, and Parents for ADHD Australia.
The aim of the guide is to encourage people to think about and stop using words/rhetoric (including words that elicit negative narratives and stereotypes) that tend to feed into the stigma surrounding ADHD and cause psychological harm to those living with the disorder, and instead, use language that fosters understanding and awareness of ADHD and aligns with the recovery paradigm i.e. hope for the future, acceptance of disability, personal empowerment, etc.(as outlined in the National Health and Medical Council Recovery-focused language guide).