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.
In conversation with an Executive Director of AXYS some years ago at a time when they were trying to embrace Intersex and what bearing it would have on the general population, I found it difficult to shift his focus away from gender identity which in effect was a ‘get out of jail free card’ because it would give them the right to say not all XXY’s were intersex when in effect they actually are. You see Intersex or being Intersex relates to Biology our innate selves what makes us who we are, whereas Gender relates to identity and who we perceive ourselves to be, the two are not related. At that time, AXYS represented several different sex chromosome variations, such as XXX, XXY, XYY, XX/XY and of those I was asked why XXY’s were the ones more likely to experience gender dysphoria, I told him the answer was staring him in the face, that the presence of two X chromosomes was always going to be counterproductive when the individuals were administered Testosterone as their primary sex defining hormone.
Sadly AXYS never did ‘officially’ embrace the concept of Intersex and nor for that matter the concept of heightened gender dysphoria amongst XXY’s who are administered androgen therapies. In that absence, because AXYS is a formidable voice that works closely with doctors who make the rules regarding our medical treatment, all those who for whatever reason were unable to tolerate testosterone are left with deep-seated psychological scarring of being forced to conform to something they are not. To this day there is no dedicated medical care for XXY’s who are unable to adhere to Testosterone ‘the standard treatment of care, which is all the more reason why research of this nature is so crucial to shining a bright light on segments of the ‘community’ who are never included in ‘support’ groups and rarely if ever spoken of.
The research has the full backing of The XXY Project. We would appreciate it if those of you who have followed our advocacy over the years and have an affiliation with XXY would complete the survey and share it amongst your networks. By taking part you will be helping to further understand gender identity among individuals with KS/XXY and contributing towards shaping the psychological support required for those who may experience discomfort or uncertainty as a result of their gender identity experiences
The University of Derby (United Kingdom) is conducting this research to explore the experience of gender identity among KS/XXY individuals and to understand if any of these experiences have affected an individual’s well-being. To understand the psychological support offered to individuals that may have experienced gender identity discomfort or uncertainty at any point in their lifetime, and/or prior to and during hormone replacement therapy (HRT) (if applicable). To inform potential recommendations about providing KS/XXY specialist psychologists to support individuals with KS/XXY.
The study has been reviewed by two members of staff on behalf of the University of Derby College of Health, Psychology and Social Care Research Ethics Committee and is in accordance with the ethical guidelines of the British Psychological Society; a professional body of psychologists in the UK who overview research to ensure that it protects the safety, rights, wellbeing and dignity of anyone who takes part.
The KS/XXY clinic at St. Thomas’ Hospital in the United Kingdom is seeking your help with conducting some valuable research, part of which includes a questionnaire that seeks to understand the varying gender representations seen amongst 47 XXY’s. The findings will be used to determine how the clinic might better support those whose identities differ from that of males. Contributions are sought from XXY’s above twelve years of age and (if necessary) parents and guardians are welcome to assist.
The questionnaire consists of twenty-three questions and should take around ten minutes to complete. Your responses will be confidential and no information that could personally identify you will be collected.
Researchers at the University of NSW are seeking volunteer research participants to identify home features impacting children and adolescents with ADHD. By participating in this research you can help us better understand how to make homes more suitable for people living with ADHD.
Who Can Participate
Be over the age of eighteen, and
Be a parent guardian or carer of a child or adolescent diagnosed with ADHD
Benefits To You
Once you submit your response you can access a factsheet about built environment and ADHD. The factsheet gives information about some elements that can trigger ADHD symptoms and suggests some ways of space design to improve physical surroundings to be ADHD friendlier.
The Survey Is Anonymous and Online
For more information please contact Professor Catherine Bridge at email@example.com
Just published and made available through Amazon, “Tomorrow” written by Nathan Bowker an XXY individual who identifies their gender as Non Binary, Tomorrow documents the authors lived experiences from difficult school years to an eventual diagnoses of Klinefelter’s Syndrome in their early twenties. Unlike a lot of squeaky clean accounts of living with Klinefelter’s Syndrome, Nathan’s account is not like any of those, instead we catch a glimpse of the raw realities of struggle, awareness, eventual acceptance and then a yearning for research so as to better understand the XXY vessel they reside within and to share that with you, the reader so that you might also understand yourself a little better
“My middle school years marked a time of increased difficulty. I had a difficult time in English class. There were so many rules regarding verbs and predicates. The concepts and terms were very confusing. The curriculum was geared toward brains that had reached a level to understand complex ideas, but it wasn’t inclusive to people like me. I remember an English teacher in the 7th grade asking me the same question over and over. I just started guessing which word in the sentence he was talking about and every guess was wrong. I finally told him “I don’t know,” in a frustrated tone and he threatened: “I’ll kick your ass.”
It’s possible my classroom antics helped me pass difficult subjects. If I was quiet and failing, it may have garnered more attention with the possibility of failure and to repeat a grade until I could demonstrate proficiency. The teacher who threatened me with violence in front of my class might have exhibited a different layer of sadism if I was trying to be invisible while failing. He’d probably have enjoyed shining a spotlight on my existence in having me return the next year with younger classmates, who’d understand the same lessons I felt inadequate in. However, no one wanted me longer than was necessary. They’d rather pass me on to the next grade and hope I matured someday. If not, I was someone else’s problem. Empathetically, I’ve come to see how my former teachers were doing time with my presence.
The system of a person teaching and students learning works for the vast majority of people. There will always be people like me who slip through the cracks. It’s the same comparison as labelling people either male or female at birth. To declare me a boy without any other testing seems like a negligent lie. I went to school as a male and my teachers continued the deceit. Nowhere in those health textbooks was I told of alternate developments. There were no pictures or diagrams I could compare what I had going on differing from the Tanner stages with possible outcomes.
At my most vulnerable points I reached out for knowledge, first on why there was a problem, then what it was. The words I’ve found have violated me even further. It was like trying to catch falling knives. There are words in everyday usage with secret intentions embedded within them. Once I realised that derision I could never unsee it.
The definition of species is “a group of living organisms consisting of similar individuals capable of exchanging genes or interbreeding.” They can either actually breed, or have the potential. According to this definition, I’m not a member of a species either. Sex exists for reproduction and nature decided I don’t get that reward. It’s equally distressing to be left out of both of our social constructs concerning gender and language. It gives me a sense that my life is intruding on the reality of others. I cannot easily define myself to fit into boxes. All I can say is I have a heartbeat and I feel.
I got into etymology during my stay in prison. I didn’t even know what it was called back then. I started looking up words and noticing the historical references. The more I looked, the more I saw how words can share the same root. It’s fascinating to me. Coming from Greek are both parts of the word etymology. There’s etym for true and ology meaning the study of. If etym can lead me onward, then I can use the ology to better understand what’s being said to and about me.
A word I’ve never been fond of is the word transvestite. It’s a combination of two Latin words literally meaning “across clothing.” Trans meaning across and vestire meaning clothing. I think it was my childhood exposure to that word and the negative connotations it had in the 80s. I don’t have a problem with the definition, I just don’t like the images I have associated with the word.
Dictionary.com lists an informal definition of eunuch as an ineffective man. Their example is: a political eunuch. The medical use of eunuchoid from the same site is: an abnormal condition in males, characterized by lack of fully developed reproductive organs and the manifestation of certain female sex characteristics, as high voice or lack of facial and body hair, resulting from the absence of a normal production of male sex hormones. It’s like being victimized all over again and reminded of so many parts of my body that I’ve been dysmorphic about. Sometimes every article I find drives me lower and it feeds a perpetual cycle downward. The worse I feel, the more I look; each action feeds the other.
An article from The Atlantic published April 1, 2013 written by Kristen Kukula and Richard Wassersug talks about the historical importance of eunuchs. “Their astuteness and objectivity in assessing others’ strengths and weaknesses made them particularly effective as bureaucrats, diplomats and tacticians.” Having low testosterone was a quality for solving problems and avoiding conflict. The article went on to mention a eunuch by the name of Mohammed Khan Qajar who unified Persia and created a dynasty lasting 130 years. Khan was described by historians as being “insightful and knowledgeable” concerning “the character and feelings of others.”
The words hermaphrodite and tranny are derogatory. I’m sure there are people out there who didn’t get the memo and might be unaware. The description in the medical community has shifted toward Disorders of Sexual Development (DSD). Again, people like me are described as having a negative. My shame and embarrassment are not improved when I’m described as having a disorder”.
For the first time in Ireland, an attempt is being made to understand what life is like for people with atypical sex characteristics. At the moment, there is not enough data about people’s lives to meaningfully engage in policy reform to ensure their rights are upheld in all aspects of life and society.
As such, this study seeks to change this by conducting a survey of people’s lived experiences and what it means to live with atypical sex characteristics in Ireland. It is being undertaken in two parts: by inviting people with atypical sex characteristics to (1) complete a questionnaire and (2) participate in an interview with one of the team members to tell them your story.
If you are an Irish intersex person, wherever you live in the world, or an intersex person, whatever your nationality, who has spent time in Ireland, please get involved! They would love to hear from you and to hear your stories and experiences. The information garnished will be used to direct policy changes to better the lives of Irish Intersex people where none presently exists. It will also be widely discussed at Intersex 2020: A Vision For the Future to be held @ Dublin City University on the 19th – 20th November 2020.
While its envisaged Intersex may not impact you personally the team at The XXY Project and beyond would appreciate if you would share this among your networks and/ or whatever means you have at your disposal. Thank you, and thanks also to the team at Intersex Mapping Ireland for making this a reality, they are;
PI: Dr Tanya Ní Mhuirthile. School of Law and Government.
Co-PI: Prof Anthony Staines. School of Nursing, Psychotherapy & Community Health.
AI: Dr Mel Duffy. School of Nursing, Psychotherapy & Community Health.
PD: Dr Maria Feeney. School of Law and Government.
The purpose of this survey is to understand what it is like to be intersex/to live with atypical sex characteristics in Ireland. The survey is part of a bigger project ‘Mapping the Lived Experience of Intersex in Ireland: Contextualising Lay and Professional Knowledge to Enable Development of Law and Policy’ being undertaken by Dr Tanya Ní Mhuirthile and Dr Maria Feeney, School of Law and Government; & Prof. Anthony Staines and Dr Mel Duffy, School of Nursing, Psychotherapy and Community Health in Dublin City University.
The Mapping Project has ethical approval from Dublin City University. It is funded by the Irish Research Council COALESCE 2019 fund. The project has an international Steering Committee of four members, all of whom are intersex. Similar research was conducted in Australia in 2015 by Intersex Human Rights Australia to produce their report ‘Intersex: Stories and Statistics from Australia’. We were inspired by their work and have designed this questionnaire for use here in Ireland. Members of the intersex community/people with atypical characteristics in Ireland, have also given us feedback on earlier drafts of this questionnaire.
There is a lack of data available on intersex experience in Ireland. Statistical information enables advocating for change to improve the lives of intersex people and people with atypical sex characteristics. At present, their human rights are not being actively protected or addressed. The Mapping Project aims to gather statistics and stories about what life is like for intersex people/those with atypical sex characteristics in Ireland to provide the evidence that will assist to improve understandings of intersex and, hopefully, lead to reform of laws, policies and practices to enhance their lived experience. We also hope that the information you provide will inform medical practices. Therefore, it is a lengthy questionnaire.
Who is the questionnaire for?
This questionnaire is for: 1. intersex people living in Ireland, regardless of where they were born; 2. Irish intersex people living abroad, and 3. any intersex person, anywhere in the world, who has lived in Ireland for a time.
Excerpt from; Intersex: Stories and Statistics from Australia Jones, Hart, Carpenter, Ansara, Leonard & Lucke.
Covering areas of Education, Mental Health, Children, Relationships, Sexuality and much more. While the complete study covered several Intersex variations, we have focused on 47 XXY and variants.
Most people felt good or very good about their intersex variation at the time of the study, but many had really struggled with it initially or considered suicide at some point in their lives; and some experienced depression, anxiety or PTSD. Intersex status appeared not to be something people feel intrinsically bad about in itself, as in the historic psychological and medical theorisation supporting early intervention. Instead, most participants found their exposures to social and medical constructions of their intersex status played important roles in how they felt about their intersex variations. There were very clear cut issues around medical intervention, the lack of structural support features in schools and impacts on employment for some. People with intersex variations also seemed to have mainly uniform positions on a few matters currently being debated around their inclusion in society (such as on surgical intervention and other themes)
However, there were also subgroups and individuals with differing identification and experiences – people who classified their sex marker as X or another sex, who did not in any way relate to sex binaries or who were both intersex and transgender. This showed that medical assumptions a simplistic sex allocation by intersex variation (the assumption that a person with CAH is usually female, a person with Klinefelter’s male) or that sex allocation is always necessarily stable do indeed need to be questioned, further than seen in previous studies (beyond the challenges to the assumption that people with Klinefelter’s are male offered by Herlihy & Gillam, 2011).
I am unsure if family members share my condition. I do not think so, I was called one in a million, but perhaps they say it can be the genes. I live with my partner, I married a man. Over 50 years together, we always have dinner together at the table and we never go to sleep without saying I love you. I am sterile, with osteoporosis. I lost my teeth young and they were replaced with dentures. We adopted children. We told them when they were old enough to know about being adopted and how bodies work, and how my body worked. I was nervous. They took it all in their stride and did not worry as much as I thought they would.
We are now grandparents, and some of our grand-kids know and ask questions, they think it makes me special. There were stories (on intersex people) in the newspapers in the last few years, our sons showed us. It was hard to believe how things have changed for the better. There was nothing like that when I was going through it and I would have treasured that opportunity, now I have my own family so I am not alone.
Anne, intersex woman with Ovo-testes and XXY/47 karyotype, 87yrs
Some people were homeless or lived less stable lives at the time of doing the survey, in rates similar same sex attracted youth. Some were Christians, Buddhists, Muslim or had other beliefs reflecting a relatively broader interest amongst the LGBTI community in non-Christian creeds than that seen in the general Australian community. There were people who had very positive experiences of health care, and a very minor portion of the group who preferred the use of the term DSD and understood themselves in quite clinical terms.
A few had been raised by people who were open with them about their variation from a young age and who never faced any pressure to engage in treatments for their variation, or who had adult advocates who represented their rights in clinical contexts. There were a few people who had been exposed to quite affirming experiences or structural supports around having an intersex variation during their studies or at work.
Until about two years ago I was drinking excessively; some evenings half a bottle of Vodka (700ml) and yes combined with smoking 10+ Marijuana joints per day, maybe cocaine 2-3 times in a year this was a mixture of avoidance of pain and emotions and for fun. I managed to get off the Marijuana, cold turkey, almost 3 years ago when I auditioned for a live theatre play. To remember so many lines, and full fill my dream of acting, this was the best thing to do. It has worked well for me now as I am focused, motivated on living the dream with my successful business and life. I very rarely smoke marijuana these days and this is only 2-3 times a year. I no longer rely on it.
Ralph (man with intersex variation 47/XXY/Klinefelter’s, 42yrs)
There were people who lived their lives as ‘out and proud’ advocates for those with intersex variations and often engaged with complete strangers around related topics, and people who had almost nothing to do with intersex topics beyond completing a few doctor’s appointments and participation in this study.
Complete Androgen Insensitivity Syndrome (CAIS)
Cryptorchidism (undescended testicle/s)
De la Chapelle (XX Male Syndrome)
Gonadal dysgenesis (partial or complete)
Late Onset Congenital Adrenal Hyperplasia (CAH)
Leydig Cell Hypoplasia
Mosaicism involving ‘sex’ chromosomes
MRKH (Mullerian agenesis; vaginal agenesis; congenital absence of vagina)
Mullerian (Duct) Aplasia
Ovo-testes (formerly ‘true hermaphroditism’)
Partial Androgen Insensitivity Syndrome (PAIS)
Persistent Mullerian Duct Syndrome
Polycystic Ovary Syndrome (PCOS)/Hyperandrogenism
Progestin Induced Virilisation
Turner’s Syndrome (TS, one X chromosome)
Triple-X Syndrome (XXX)
Intersex: Stories and Statistics from Australia
The most strongly represented variations included Androgen Insensitivities (whether Complete or Partial); Hyperandrogenism from Poly-Cystic Ovary Syndrome (a more extreme experience of hormonal and anatomical variations most commonly associated with PCOS); XXY/47 and Klinefelter’s Syndrome (the latter two usually appearing in combination). The greater numbers for these variations can be explained both by their greater estimated frequency of appearance in humans broadly compared to some variations listed, and the availability of variation-specific support groups through which participants could be recruited. Those who selected the option ‘Another variation’ often supplied information about alternate variations such as 48XXXY, chimerism, 21 hydroxalase deficiency and other rare variations.
I was initially raised as male despite having lower than normal 5.5 free testosterone level and XXY chromosomes, and my parents tried to masculine me. I had hormone replacement therapy during adolescence and adulthood. However, I could not reliably live as a man the further I progressed into adulthood, and since transitioned to female. After being forced to divorce, I lost my mortgaged home and have spent months being homeless. I am estranged from family. I couch surf.
Elaine, trans intersex woman with Klinefelter’s Syndrome, 31yrs
There were people who engaged in heterosexual marriages, religious lives, procreative sex and child-rearing; right through to people who had multiple partners of multiple sexes, or were divorced, or enjoyed a range of sexual play outside of traditional notions of penetrative sex, or had abstained from relationships and sexual activities almost entirely. Some participants had never met anyone else with an intersex variation and were excited to discover the social groups listed on the survey itself, some had regular contact with other people with intersex variations.
A few participants in the single subgroup were looking for partners for whom penetrative sex was less of a focal point due to their own disinterest either on the basis of their bodily variation or the impacts of treatments they had received. Others had actively sought single lives to focus on their own happiness unhindered by partners.
While I desperately want a male partner ‘before I get too old’, I am ‘in a terrible situation where I can’t have sex with them’
Elaine (trans intersex woman with Klinefelter’s Syndrome, 31yrs)
Whilst this study showed themes and commonalities in a mainly Australian context, it is important to remember that all people with intersex variations are individuals and should not be stereotyped, and further they may think about their variation and the level to which it should be discussed or treated (if ever) in wildly different ways. It would almost be quite naive to assume anything at all, for example, about which treatments or specific schooling management plan would be useful for any given individual with an intersex variation before actually talking to that individual about their unique perspective on the matter; therefore, the recommendations that follow have been honed to cater for a diverse range of possibilities for improvements that can be offered in institutional and social contexts towards better overall social outcomes for this group.
I felt that ‘Gay’ did not entirely fit, but that ‘Asexual’ was only partially accurate, and also offered ‘Another label’ (homo-erotic) which was perhaps the best term they’d found for being not quite completely male and not quite completely sexually available to men, but somewhat both those things.
Jordan (intersex individual with intersex variation 47/XXY/ Klinefelter Syndrome, 56yrs)
• Of the key people in their lives, participants’ doctors, mothers and friends were most likely to know about their intersex variations; principals and priests/spiritual advisors were least likely to know.
• Participants were most likely to have experienced supportive responses from a friend, partner, sister or mother; and least likely to have had a supportive response from people at school.
• Whilst most participants assessed their variations as mainly rarely to not at all obvious, a smaller portion of participants felt their variations were mostly or completely obvious to strangers.
• 66% of participants had experienced discrimination on the basis of their intersex variation from strangers.
• Most (70%) never or rarely discussed their variations with strangers, and could risk being exposed to common myths about their identities in discussing the topic. Conversely, most (65%) said engaging with others with their variation or similar improved their wellbeing.
My first endo said if I have a Y chromosome I must be male and treated me accordingly, but I never agreed to that. My new endo believes I am female and we get along famously. My GP is confused! ‘X’ and ‘Y’ are simply the apparent shape of the chromosomes and have little, if anything, to do with gender and sexuality. One friend told me that when she was little everyone thought she was a tom-boy… in other words she missed the point entirely. (Intersex groups were) mostly positive, but even within intersex communities there is great opposition to including transgender people like me.
Melissa, trans intersex male-to-female with 48XXXY chromosomes, 63yrs
Participants wrote 112 comments on the visibility of their congenital variations. The largest theme that arose in 53 responses described many participants’ experience of not being visible to strangers as having an intersex variation, unless they chose to tell someone, were naked or having sexual intercourse. Stewart (male with intersex variation Klinefelter’s/XXY, 39yrs) said HRT helped him to look masculine; ‘…on T especially I am like most guys most of the time’.
I am XXY with a female exterior and breasts and I had normal menstruation until menopause. However, I am very tall and large in stature. Have always had an extremely healthy sex life. I have given birth. […] I was told I should have been sterile. But easily got pregnant.
Jules, intersex female with XXY/47 chromosomes, 48yrs)
The large majority of participants did not identify as having a disability – an important point to emphasise given the fact that people with intersex variations have been construed by some medical bodies as disabled /disordered on the basis of their bodily difference alone, and have sometimes more recently had to use disorder framings to access services. In total, 27% of the group identified themselves as having one or more disabilities.
Approximately half of the disabilities described were physical in nature. These included, for example, being legally blind or colour blind, being mainly wheelchair-bound, bone degeneration, central diabetes insipidus or type 1 diabetes, epilepsy, fibromyalgia, glaucoma, hypothyroid, lupus, malformed kidney, motor skill development delay, movement impairments, osteoporosis-related bone density loss, scoliosis, Schurmann’s disease and so on. Participants with Turner’s Syndrome were particularly likely to discuss related issues with their legs and heart valve development malformation, participants with Kallman’s Syndrome experienced anosmia (lack of a sense of smell and related to this, taste) and dental health issues, and a few individuals with 47/XXY discussed losing their teeth or poor dental health. Several individuals saw infertility related to their variation as a disability. A few individual participants with osteoporosis and bone degeneration suspected this was related to hormone therapies.
I dropped out of school in grade nine, after intense bullying and a general sense of ‘being so lost’ and looking for the school to ‘find’ me or reach out in some way. Schools should find places in their curricula ‘to discuss intersex bodies, chromosomes, and the many varied elements of sex as early as possible. Repeat this over the different grades. It will be the ray of light kids like me are looking for, and it is after-all, true’.
Inga (intersex woman with XXY/47 and Cryptochidism, 43yrs)
The remainder of the disabilities were mental/emotional/cognitive in nature. These included for example ADHD, anxiety, Asperger’s syndrome, autism, bipolar disorder, borderline personality disorder, depression, gender dysphoria, PTSD, reactive detachment disorder and a range of learning disorders. Seven individuals diagnosed with disabilities said (or had been previously told) their intersex variation was a physical disability in itself (including 47XXY, CAH, CAIS Grade 7, Kallman’s, Klinefelter’s, PAIS and Turner’s Syndrome XO) – whether they did so in a manner in keeping with Conservative notions of intersex status as a disability, or as more intentionally Post-modern subversions of ‘able-bodied’ identification and glorification, was unclear (due to the short answer nature of responses).
The issues and implications emerging from this research covered a range of fields, and involved a number of stakeholders from governments through to service workers and everyday citizens. These recommendations include consideration of parents/guardians of people with intersex variations; health services and policy and training; mental health services and training; education policy and practices; employment policy; social contexts; and media representation, advocacy and further research.
Friends, partners, sisters and mothers were key sources of social support for people with intersex variations, and further support across a range of relationship types is to be encouraged. Everyday people in the lives of those with intersex variations have the potential to offer support simply through taking an affirming attitude; this particularly needs to happen in schooling contexts and religious/spiritual contexts where a range of people have more frequently responded in mixed or unsupportive ways.Given most participants had experienced discrimination, many myths about people with intersex variations abounded and most people with these variations never or rarely discussed the reality of their variations with strangers (and nor should they have to).
I do not call myself intersex like someone who is halfway for example. I do not see myself as intersex in terms of an identity as a third sex to tell friends or neighbours, I am a man with an intersex variation. I am not my chromosomes, I have chromosomes or a variation. I have heard doctors say DSD recently. I am glad I did not grow up thinking I had a disorder.
Broader social campaigns educating the general public (without requiring unwilling individuals to come out or explain themselves) might perhaps be of great value to ensuring wider affirmation of this group. A game-changing finding of this study was that most participants found engaging with others with their variation or similar improved their wellbeing. This finding suggests that more Government and philanthropic grant support for these groups – if used wisely – could represent a strong long-term investment in contributing to the social factors that can improve the groups’ overall mental health risks.
Health Services, Policy and Training
Whilst most people with intersex variations considered themselves to be moderately to extremely healthy at the time of the survey, this group had several key concerns about health/medical service provisions. These concerns particularly focused on the period in which their variations are first discovered and where treatment plans are initiated and carried out. The background literature for this study had highlighted that surgical and hormonal interventions for people with intersex variations are currently under heated debate, with theUnited Nations decrying ‘normalising’ interventions in reports on torture and the right of the child and some medical researchers supporting their use.
I have trisome x. I look like a tall and girly girl, you would not be able to tell by looking at me, you would think ‘oh she is tall’. Although, I have speech disabilities related to being Triple X, and had delayed motor skill development (took longer to walk than most babies). The other symptoms are not obvious, in me anyway. They were checking my blood when I was in my early teens and doing all sorts of tests because I was so tall and having back problems and the doctors were worried I was having problems stopping growing. That was not it though, it was xxx. I felt neutral when I was told, I did not know what to think. I needed several surgery treatments for scoliosis, related to my trisomy, which were extremely painful, helping to straighten me up. I was given information on the processes, ideal outcomes and risks. We knew it was dangerous, but scoliosis is also dangerous and can impact my breathing, so we decided to do the surgeries.
Xanthe, woman with intersex variation Triple-X Syndrome/XXX, 18yrs
Most participants in this study had experienced around two treatment interventions, most commonly hormonal treatments and genital surgeries of varying kinds, and many of the key issues around these treatments arose around the fact that over half were delivered when they were aged under 18yrs – at a time when, and in ways where, their right to be able to make fully informed decisions about treatments were often overlooked.
With the majority of participants receiving no information about risks related to the interventions and one fifth receiving no information at all, people with intersex variations were often uninformed about their rights as patients and in some cases class themselves as being coerced or outright abused by individuals and processes in medical institutions. This has created, for a noteworthy portion of this population, feelings of anger and trauma around medical services, and in some cases people now actively avoided them – which is worrying in light of the fact that people with intersex variations, like anyone else, may have physical health needs or illnesses for which medical help can be useful.
Because I struggled with exogenous testosterone, the endocrinologist who made the initial diagnoses referred me to a psychologist who said ‘I didn’t come across as being a typical transgendered person’ …FAIL. Upon getting my life back on track and seeking out an alternative medical team, the second psychiatrist also said I wasn’t typical Trans, and tentatively recommended oestrogen as an antidote to testosterone, but only for a short time. My Endo said to take no heed of what the psychiatrist wrote and has been treating me with oestrogen for the past ten years. Over that time period the psychiatrist has been in touch with me on two occasions and has written two papers inclusive of my experience of gender difference, perhaps I was the subject matter he had long waited for.
Celine, female with XXY/47, 50yrs
The data clearly showed that there were physical, mental and psychological impacts to treatments used for people with intersex variations around their sex characteristics, which must not be ignored – even in most of the cases where treatments were seen as useful by an individual overall there was also at least one negative impact they had not been warned about. Whether health services framed intersex variations in supportive or negative ways also held ramifications for how people felt about their intersex variations, with negative health service constructions of intersex variations associated with negative feelings and periods of suicidal ideation for many participants.
Whilst medical practices and attitudes may be changing from those experienced by participants in this study (who were all 16 or over), recommendations are clearly needed to help ensure the negative experiences associated with older approaches are not shared by future generations of people with intersex variations. This is especially important since other recent studies have not clearly pointed out issues with early intervention paths – despite findings which confirmed, as with this study, the likelihood that intervention can lead to sexual difficulties and complications.
I was ridiculed for not liking sports, and for preferring poetry and playing with dolls. My lack of physical strength was also a target for teasing and ridicule. In a lot of ways I came to resent being seen as weak, and like to both outsmart people as well as to be tough and scrappy; to beat people in physical fights by being able to take harder hits than them rather than to hit hard myself. I also liked to show off the skills I do have and make fun of guys for not being able to do things that are easy for me.
Bailey (intersex non-binary individual with Klinefelter’s and ovo-testes, 25yrs)
Recommendations by civil society organisations such as the United Nations and World Health Organisation (as well as their regional and state members) should include that people with intersex variations should be given adequate information about their variation, and should become not only a partner with medical practitioners in formulating any treatment plan but indeed, the driver of any such plans.
Another key recommendation based on this study is that medical practitioners of all kinds be trained (both in undergraduate and professional development programs) to understand that sex presentation is and should be variable; intersex variations are to be expected in the human population. It would be useful for training to cover intersex variations of many kinds, and that most people with these variations have healthy bodies but some may or may not choose to seek assistance (as needed/desired) in areas including stimulating a puberty; aesthetic appearance of sex characteristics; and/or fertility treatments
My intersex variation ‘may be why I left school early and found it hard’; without testosterone treatment I had felt low energy and found it hard to concentrate, whereas with it I experienced a lot of anger. I recall that at school ‘I was always called lazy, had no energy. Probably from low testosterone I reckon, they were pretty mean teachers’. My view on what would have helped me in school was staff training on variations; ‘learn about the variations, help kids through, don’t assume low energy = lazy it could be a health issue’.
Zachary (male with intersex variation, Klinefelter syndrome 47/XXY/micropenis, 20yrs)
Anger and trauma particularly surrounded certain practices which all medical practitioners need to be trained to avoid, and which institutional policies should prohibit, including:
responding to patients’ bodies negatively (expressions of shock, horror, curiosity should be avoided);
proceeding with physical (particularly genital) exams or tests for which no patient permission was sought (whether they are a child, teen or adult);
sharing information on the patient’s body or the viewing of the patient’s body with no patient permission (whether with a colleague/supervisor or group of medical students for example);
proceeding with ‘correction treatments’ of atypical sex characteristics for which no patient permission was sought or information/counselling provided; and
asserting (inaccurate) social biases against the life people with intersex variations might lead without treatments.
I would like to see the results of this study, and want to see more studies ‘from our perspective like this’. I am most interested in hearing ‘other peoples’ stories as it has been a very important thing in my life to know there are many others like me and to feel part of a community’.
Clyde (trans intersex man with 47/XXY, 44yrs)
Based on that data both on what people with intersex variations most wanted, and on what increased wellbeing for this group, medical services should have policies organised around goals to:
increase support for the autonomy and choices of people with intersex variations around their own treatment paths,
provide staff training/education on intersex variations;
provide people with intersex variations with information on their specific variations on and after diagnosis; and
provide people with intersex variations with referrals to intersex support groups and online communities, where positive constructions of intersex status can be experienced, and information and support can be shared.
I was ‘laughed at and insulted with my shirt off, like at the pool or beach’. In specific contexts (such as shopping centres) discrimination examples sometimes involved being denied documents in processing situations, being mis-gendered and then escorted out of bathrooms, being actively overlooked in service situations, or being over-charged or over-examined
Barry (intersex male with Klinefelter’s/47/XXY, 17yrs)
It is important to note that some people with intersex variations participating in this project may have been subjected to medical approaches no longer considered optimal or in wide use, and that some modern Australian medical services may indeed already be applying more critical approaches. However, to ensure these processes do indeed occur, governments of countries including Australia should take legislative, administrative and other measures to guarantee that non-urgent, irreversible medical interventions for people with intersex variations are postponed until and unless they are sufficiently mature to participate in decision-making and additionally give their informed consent.
Roles for Parents/Guardians in Healthcare
Families, parents and other guardians of people with intersex variations were often given inadequate information about their intersex variations according to the participant themselves, including the full range of treatment options and future possibilities open to someone with an intersex variation. Where they made treatment decisions on their child’s behalf, some participants explained that having their health care decisions taken out of their hands caused them personal difficulties and wellbeing complications, and for those who would have made alternate decisions there were sometimes lifelong complications around their sex presentation and fertility (and both immediate and long-term health complications as well). It is important to note that this was not always the case.
I’m in a long-term monogamous marriage currently legally recognised in Australia. I believe anyone should be able to marry, nobody should divorce someone just because they have a variation. People should be more understanding, it could have happened to any of us. Mostly testosterone helped with sexual passion. Yet as my wife and I get older we decided that is less important. The sexual protective devices available are adequate for my body; although now we are married do not use any condoms.
Vincent, male with intersex variation XXY/47, 49yrs
The findings of this study suggested that undergoing treatments to one’s sex characteristics without one’s consent was perhaps a more common experience for people with intersex variations than may have ever been previously recognised in research, and that a strong majority of participants disagreed with any kind of health care approach in which they were unable to have their own perspectives on their own bodies foregrounded. Given the health and mental health risks experienced by people with intersex variations, their overall opinions as a group, and the lack of information we have on the overlap between parents’ visions and people with intersex variations’ visions for their ‘ideal health care’ and what exactly that should entail, it is recommended that parents and guardians take a cautious approach and actively resist engaging interventions for their child before they are of an age to themselves give their consent – which could vary from individual to individual, and may be impacted by a range of physical, psychological and social factors
Whilst the broader literature may give some conflicting advice on this matter, new literature produced by the United Nations and individuals with intersex variations themselves argue for the right to bodily autonomy (Davis, 2015; United Nations, 2012). Furthermore, in this study, participants many times expressed a desire for their parents to be a more protective force for their personal rights in navigating health care services. Because the study highlighted perceived gaps in parents’ knowledge of people with intersex variations’ needs, it is important that governments including the Australian government consider mandating the provision of some basic counselling services for all parents and guardians of people with intersex variations, to inform them of the consequences of unnecessary surgery and other medical treatment and to ensure a context in which expertise around intersex variations could be shared. It may be necessary for a general resource around this matter to be developed, such as a booklet for parents and guardians, which could be provided by a range of counselling services with varying levels of expertise on the matter, to help educate all parties about key issues.
I tend not to date. My physical differences are far more obvious unclothed, and so social expectations based on my appearance don’t fit the reality. Also, my body doesn’t respond physically in ways that I experienced prior to surgical interventions. I also have trust issues arising from diagnosis during a long term relationship due to pressure from my then partner.
Neil (male with intersex variations testicular impairment ‘disorder’ and gynaecomastia, 48yrs)
Mental Health Services and Training
The data from this study around mental health outcomes contrasted with Warne et al.’s (2005) more positive assessment of ‘psychological outcomes’ for the population surrounding medical intervention. Notably, Warne et al. did not ask the people with intersex variations themselves how they had felt about the interventions they were subjected to. In this study, whilst most participants reported that they had good or better mental health at the time of the survey, most reported that they had also been through periods of suicidal ideation in their lives and many had experienced depression, anxiety and PTSD. Mental health risks – particularly suicidal ideation – appeared to be notably high around the time period in which people with intersex variations were first told of their variation.
Factors contributing to risks as cited by participants included negative social responses from others, difficulties around having undergone interventions or issues around gender/identity (which could be exacerbated by professional care which involved pressure around producing a certain type of gendered behaviour and/or identity). This appears to reflect both the history of silence and stigma around people with intersex variations outlined in the literature, and the complex context around medical interventions and negative messaging around the ‘ab/normalcy’ of intersex variations. Participants in this study called for improvements in training for mental health services/ workers, and it would be useful for general information to be available in undergraduate training and professional development opportunities for psychologists, counsellors and other mental health workers. In addition, mental health practitioners are advised to try (and indeed, be seen to try) to learn about the variations experienced their clients and take interests in their concerns. Some participants wanted to see mental health services to be supplied specifically for younger people/children/adolescents with intersex variations which could empower and support them to have a say in their medical treatments and interactions around their body with doctors and/or family
My wife accused me of being a flatmate rather than a husband and being like a woman in bed. I suffered every kind of sexual dysfunction male genitalia could be afflicted with. Somehow I did end up with two children whom I love dearly, but apart from that being married was nothing short of daily torment.
Noreen (transgender intersex woman with Cryptorchidism, 61yrs)
Finally, it is undeniable that a few individuals in this study had suffered a unique and extreme form of trauma from the multifarious impacts of being subjected to unnecessary and damaging medical interventions without their consent. This is not to characterise people with intersex variations as inherently victims, or intervention as inherently victimising. It is important to note the resilience of many people with intersex variations broadly and in relation to interventions whether they actively sought them out or not. Some individuals experienced positive impacts from interventions, particularly from chosen interventions or from interventions in-keeping with their own personal ideal visions for their bodies. However, there were individuals who experienced significant negative impacts from medical interventions they had not consented to including for example negative health impacts, negative mental health impacts, negative sexual health impacts, and/or negative employment impacts. For some individuals,these experiences combined to position them outside of the educational, industrial and social systems necessary to leading a dignified, fulfilled and socially connected existence. It is recommended that, for such individuals, governments provide adequate redress for their physical and psychological suffering to help mediate long term impacts on their quality of life, to truly affirm their individual value and to show an active intention to create a ready place for all people with intersex variations in our communities.
Given the recent remarkable advancements in genetics, it’s easy to assume that 21st century scientists have at their disposal a clear, quick way to run a genomic sequence scan and find out which genes among thousands can be expressed and which cannot. Gene expression is the process by which information encoded within genes leads to key products, such as proteins.
Surprisingly, that hasn’t been possible until now. Biologists at the University of California San Diego have developed the first system for determining gene expression based on machine learning. Given the lack of such a method, the new process is considered a type of genetic Rosetta Stone for biologists.
“This paper represents the first method to distinguish genes that can be expressed from those that cannot,” said Steve Briggs, a Division of Biological Sciences professor and senior author of the paper. “This is the basis for all of biology. Whether it’s drug discovery or plant breeding or evolution, this touches the basic studies of biology.”
The method, developed by graduate student Ryan Sartor, Briggs and their colleagues, is described August 12, 2019 in the Proceedings of the National Academy of Sciences.
Biologists have previously classified gene expression through experimental observations and scientific literature references. But the genomics field lacked a formalized process for revealing this information, called the “expressible gene set,” or EGS, which comprises all protein-coding genes with the potential to be expressed.
“In biology, there is no method to do this,” said Briggs. “In the past we’ve just had empirical approaches to making catalogs—we haven’t had scientific criteria that classifies the genes based on their molecular features.”
The new method leverages machine learning, the use of algorithms and other processes to analyse data, and is based on an example set of nearly 30,000 maize plant genes containing specific, detailed molecular features. An advanced algorithm was trained on the data and “learned” to classify gene expression at 99.4 percent accuracy.
The key to the advancement is bringing together chromatin biology, which contributes to regulating the DNA packaging within cells, with molecular features that are known to determine gene expression. Combining these with mathematical machine learning, the new method of determining the species-wide set of transcribed genes, or “expressome,” then creates an atlas of expressible genes. The method may also be useful in understanding evolutionary mechanisms that silence certain genes.
Briggs is now applying the method to sorghum, an important grain for food and fodder, but says it can be useful beyond plant species. Ultimately, he says the new method is like a word decoder.
“The genome sequence is like a book,” said Briggs. “The words are the genes. Until now, we couldn’t tell which DNA sequences were real words and which merely resembled words. By removing non-words we now have a much more accurate reading of the book.”
Humans receive half of their DNA from each of their parents. However, this inherited DNA is not identical to the corresponding half of the parents’ genetic material. Instead, both the egg and the sperm that combine to generate an embryo carry so-called ‘germline de novo’ mutations that are not present in the rest of the parents’ cells. Although these de novo mutations are an important source of genetic diversity, they can also cause disease.
Geneticists have a longstanding interest in how, when and at what rate germline de novo mutations arise. These questions are commonly addressed by analyzing the DNA of large cohorts of two-generation families. Now, Sasani et al. have used the genetic data of 33 families in Utah, United States, which all span three generations, to determine the rate at which de novo mutations appear.
The analysis revealed that, on average, each person has around 70 de novo mutations that were not present in their parent’s genetic code. Sasani et al. also found that sperm and egg cells from older parents typically contain more de novo mutations. However, this effect varied substantially across the Utah families. In some families, an increase of one year in the parents’ age resulted in over three extra de novo mutations in their children. In others, the number of new mutations barely increased at all.
In addition, Sasani et al. found that almost 10% of de novo mutations do not occur in the parents’ sperm or eggs, but happen in the embryo very soon after fertilization. These mutations can lead to ‘mosaicism’, resulting in a person having a mutation in some, but not all of their organs and tissues. In some cases, this could cause an unknown number of sperm and egg cells to carry a mutation that others do not. This makes it hard to predict how likely two or more siblings are to inherit the mutation.
This analysis reveals that parental age affects the number of de novo mutations in children, but this effect changes from family to family. This finding could point to genetic or environmental factors that alter the human mutation rate.
Scientists have developed a molecular “clock” that could reshape how paediatricians measure and monitor childhood growth and potentially allow for an earlier diagnosis of life-altering development disorders.
The research, published this week in PNAS, (Full Study) describes how the addition of chemical tags to DNA over time can potentially be used to screen for developmental differences and health problems in children.
The study was led by researchers at BC Children’s Hospital, the University of British Columbia (UBC) and the University of California, Los Angeles. It is the first study to describe a method specifically designed for children, called the Paediatric-Buccal-Epigenetic (PedBE) clock, which measures chemical changes to determine the biological age of a child’s DNA.
Small chemical changes to DNA, known as epigenetic changes, alter how genes are expressed in certain tissues and cells. Some of these changes happen as a person ages and others may be in response to a person’s environment or life experiences.
In adults, these patterns of epigenetic changes are well established. They can be used to accurately predict a person’s age from a DNA sample or, if a person’s epigenetic age differs from their actual age, it can point differences in health, including age-related diseases and early mortality.
“We have a good idea how these DNA changes occur in adults, but until now we didn’t have a tool that was specific for children,” says Dr. Michael Kobor, senior author of study. “These DNA changes occur at very different rates in kids and so we adapted this technique for younger ages.”
Kobor is an investigator at BC Children’s Hospital and the Centre for Molecular Medicine and Therapeutics, a professor in the Department of Medical Genetics at the University of British Columbia, the Tier 1 Canada Research Chair in Social Epigenetics and the Sunny Hill BC Leadership Chair in Child Development.
The PedBE clock was developed using DNA methylation profiles from 1,032 healthy children whose ages ranged from a few weeks old to 20 years. The researchers found 94 different sites in the genome that, when tested together, could accurately predict a child’s age to within about four months. The team also found that children who spent longer in the womb showed an accelerated rate of DNA change by three months, demonstrating that this tool could be used to indicate an infant’s developmental stage. The analysis can be done cheaply and efficiently on cells collected from a cheek swab.