Mental Health Research Study

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.

Have you got the Covid Blues?

Who doesn’t need someone to talk to during these stressful times and who better could that someone be but someone who’s travelled your road either before you, along side you, or following on behind. If you live in Australia and are a member of either Intersex Human Rights Australia or Intersex Peer Support Australia and you would like would like to participate in these weekly catch-ups with an Intersex community you can do so by clicking on the button and following the prompts. We are all in this together.


Intersex Peer Support Australia and Intersex Human Rights Australia are Not For Profit Organisations

The Lived Experience of 47XXY (Klinefelter Syndrome): A Narrative Review of the Literature

It’s really great when researchers show this kind of initiative, almost like filling in the blanks and stating more clearly what renowned researchers wish they could say but who feel compelled to stick within the guidelines of grants and other less obvious monetary interests of their work, which is sad, because we never get to understand the whole picture. and from an XXY perspective that means continually ignoring the whole Elephant and focusing only on the tail. An additional bonus here is the work is peer reviewed by two power-horses of XXY research both of whom are long time affiliates of The Arrhaus University Denmark, a world renowned centre for understanding the underpinnings not just of 47XXY but also of other sex chromosome variations.

As a community we owe it to ourselves to ask uncomfortable questions or questions abounding areas researchers might not otherwise have given any thought to. Intersex Human Rights Australia (previously known as OII Australia) was one organisation who asked the lead researcher Dr Amy Herlihy who was conducting research on behalf of Andrology Australia “Screening for Klinefelter’s Syndrome” if they were just looking for male identified XXY’s or were they also interested in females, this was the reply

So the moral of the story is, if you don’t ask the question, not only will you never know the answer but it will never be recorded as having been asked.

The XXY Project

Klinefelter syndrome (KS) or 47, XXY is a chromosomal disorder in males. Persons with KS have an additional X chromosome creating karyotype 47, XXY and 46, XY/47, XXY mosaics. According to existing epidemiological studies KS is one of the most common genetic disorders, affecting ~1 in 500 men. Whilst there can be phenotypic variation between individuals, physical traits associated with the syndrome can include small testes, a less muscular body, less facial and body hair, broader hips, and increased breast tissue. This physiological background and associated traits can generate questions relating to gender identity and a proportion of KS individuals will not identify as male, instead identifying as female, non-binary or intersex.

Learning difficulties, low self-confidence and issues relating to social interaction are also reported in relation to those with KS. Whilst a number of physical and developmental issues are therefore associated with KS, infertility is a common feature of the disorder. Estimates suggest that over 95% of those with KS are infertile, although some men with KS can seek to have biological children using advanced assisted reproductive technologies such as surgical sperm retrieval followed by intracytoplasmic sperm injection (ICSI). Such approaches are however high risk and uncertain, and those with KS may also be faced with decisions about the use of donor sperm, adoption, or remaining childless. This review examines the existing psychosocial evidence around the impact of KS, exploring what we know about KS and its relevance for health care for this group.

This narrative review suggests that a lack of or late diagnosis remains a critical problem in relation to KS. Whilst prenatal screening techniques may improve future diagnosis, current low levels of diagnosis remain problematic, particularly for the possibility of improving physical and mental health outcomes. This is particularly important as those with KS are reported to have poorer health outcomes than the general population across a range of measures, including quality of life and comorbidities result in a decreased life expectancy for those with the disorder. The perception that all persons with KS will demonstrate “textbook” signs is viewed as compromising the ability of patients to obtain a diagnosis. Early diagnosis allows for more extensive options for children and adolescents to preserve their fertility, which is seen as one of the key concerns for patients, although this remains an area in need of further research. Diagnosis itself can be a relief for patients, which is similar to other long-term health conditions although the literature details that uncertainty can also spring from a KS diagnosis, perhaps connected to the perceived lack of knowledge by HCPs reported within the literature.

The experience with healthcare for persons with KS is described as poor, ranging from a lack of information to misinformation, due to a perceived lack of expertise among HCPs around KS. There is a consensus in the literature around the importance and value of the multidisciplinary team as a means of providing care to KS patients. Coordinated approaches to care are currently seen to be lacking despite evidence of the effectiveness of such approaches being noted in relation to other illnesses. Questions of gender identity are noted within the literature but not extensively explored; how those with KS identify and how this then intersects with their experiences of healthcare remains an important area for future consideration.

Given the prevalence of KS within the population, greater research focus on the disorder in the future, particularly in relation to reproductive health and the psychosocial impact of KS, would have a significant impact for patients and their families. There are inevitably limitations to a short review of this nature, and not all papers which may be relevant to KS, particularly those which are more clinically focused appeared within our search, thereby illustrating a well-recognised limitation of literature keyword search based review algorithms. The voices of those with KS appear to be currently lacking from the literature, which could be further marginalising, so future research should attempt to capture the lived experience of those with KS and use participatory methods where possible to embed this lived experience centrally within research. Developing a priority setting partnership for those with KS to identify and rank key research areas for the future would be fruitful, and co-production of research agendas would help with inclusion of this otherwise hidden group. Attempts to move forward research and care for those with KS should then begin with a central focus on what matters to those with KS and seek to make positive improvements to their diagnosis, outcomes and encounters with healthcare professionals.

Footnotes

Whilst we refer to men within this paper, given that primarily those with KS will identify as male, we are aware that not all will identify as male, and have chosen this terminology for clarity and to reflect the medical literature on this topic.

Continues reading…….

What We Would Like Doctors To Know About XXY

If you are a Doctor

And consider yourself an expert in all things XXY, then you will never learn anything about us. Adult XXY’s often have adversarial relationships with physicians. If you have a patient like that, don’t take it personally, it’s probably because the medical community has treated us so badly for the last several decades. When we meet a doctor for the first time, we might be wary. We are assessing you as a potential doctor as you are assessing us as a potential patient.

Don’t assume that by having gone to Medical School you are more educated than those of us who are XXY. When you went to medical school research surrounding XXY was smaller than a paragraph and most all of it was negative.

I need my doctor to keep an open mind. Their main oath is to do no harm thus I expect them to be interested in new studies on XXY and to educate themselves about the latest research both in hard data and testimonials of XXY people. This means if I say testosterone is making me ill or ask for a trial on estrogen, then please explain to me why or why not without judgement and based on my medical tests. Please respect that I know my body better than you and I am in tune with how I feel.

Remember I am a human being first and not a condition, disease, anomaly, freak or abnormality of nature. I am so much more than my chromosomes and my physical body parts. Care for my body, keep it healthy but don’t try to manipulate it or change it with hormones or surgery to how you think it should be without asking me first.

Avoid assumptions. Just because I may also have a phallus, don’t assume that the best solution is to cut off my breasts. Maybe my breasts are an intricate part of maintaining my inner sense of well-being.

I need my doctor to show me how to give a self-breast exam for breast cancer and teach me how often I should do this.

Take the time to explain to me the effects of virilising that testosterone will have on my body and allow me to decide if I want to incorporate body and facial hair, male pattern baldness, and a hyper sex drive into my being. When you are considering any treatment or procedure, be sure to also tell me what will happen if I choose to do nothing.

Just because I choose to identify as male and take testosterone does not mean I am no longer XXY or that my actual gender identity is any less multifaceted than before. Testosterone does not change my genes. Allow me to talk about how I experience the XXY quality of my being in an open, non-judgemental place of safety.

Allow me to talk about how I experience the XXY quality of my being in an open, non-judgemental place of safety.

XXY’s identify in all genders, inclusive of Male, Female, Non-Binary, to everything in between and beyond. The most important care you can afford an XXY individual is one that’s appropriate for them.

Talk to me, not at me and not just about me with my parents. I can understand things if they are explained to me, and I can make decisions about my own body. Be honest with me. When examining me, first ask for my permission so I know that you recognise it is my body and my choice.

Don’t speak in absolutes or tell me how I am going to turn out

Always remember that my needs come before the needs of my parents, my doctors, or society. If you are unsure about my needs, proceed with caution, especially in areas that cannot be undone, such as with a mastectomy.

Ask to see me without my parents always being in the room.

Allow me or my family to disagree about a particular treatment you wish to try. Be willing to be a part of a respectful negotiation process about any disagreements of treatment.

Celebrate my successes with me. Ask me about my hopes, dreams, and plans.

Don’t try to fix me with hormones or surgical intervention before I am old enough to understand.

Don’t fix my gender without helping me to understand who I am.

Don’t try to fix me with hormones or surgical intervention before I am old enough to understand. Wait until I am old enough to make my own decisions about my body and my identity.

Things I look for in a doctor

  • Curiosity.
  • An ability to actively listen.
  • Provides cooperative healthcare as in co-relationship, not a doctor “doing” something to me, but a doctor working with me to help me achieve my optimum health.

 

 

How Loneliness Begets Loneliness

For a myriad of reasons there’s a long history of loneliness amongst an XXY and variant population, reasons given seem to centre on an array of psychological issues sometimes attributed to Sex Chromosome Variants especially those with trisomies. Before we even get off the mark we are told we don’t make for good partners, we are lousy at communicating, we are sterile ‘who would want us’, we are self-centred and think of no one but ourselves etc, etc. When you chuck in other known (for some) issues abounding Autism, Social Anxiety, ADHD and so forth it becomes easier to gauge why we might end up in such a  dilemma. Of course just because those issues are sometimes attributed to us, it doesn’t mean we are destined to be unhappy and lonely only that we have to find a means to work around them, and we can do this in multiple ways. Olga Khazan has written a great article for the Atlantic and lets the readers in on the tips and tricks for breaking through that impasse (should it exist).  When you’ve done reading and if you are an XXY and/or Variant individual why not write and let us know of your circumstances, if loneliness has been an issue in your life, have you have overcome it, and what changes have you made in order to achieve it.

One of the biggest misunderstandings is what loneliness is. They equate it with being alone, and that leads to attempts to solve the problem that doesn’t solve the problem at all. And if you try enough times, you start to feel like, “Well, I’ll never be able to solve this, I’m just a worthless person.” And that’s when you start getting social withdrawal.

The purpose of loneliness is like the purpose of hunger. Hunger takes care of your physical body. Loneliness takes care of your social body, which you also need to survive and prosper. We’re a social species.

One notion that people intuitively have is it’s just about being with other people, and we’ve already talked about how that’s wrong. The other thing is that it’s just about social support—“I need more support.” And that doesn’t work very well because the logic of that is it’s not mutual. Just getting support doesn’t actually make you feel very good. This is one of the reasons why when we do something for others, we tend to feel good. If you go cook at a soup kitchen, all of a sudden you start finding out that people can actually be pretty nice, they’re responding with gratitude.

The third common thing is that it’s social skills, that people with poor social skills are the ones who are lonely. Well, guess what? That’s not the case. If you have really bad social skills, you’re more likely to be lonely, that’s true. But lots of people feel lonely who have great social skills. Millionaires, billionaires, tend to feel lonely. A lot of athletes often feel lonely. Lots of people want to be their friend, but how would you feel if all the people who want to be your friend, you had the alternative interpretation that they want material or social benefits that you could give them.

This is why you see some [famous] athletes from [poor] neighbourhoods not severing those ties, even though it’s clearly to their benefit if they were to do so. Those are the only relationships they know are real, are authentic.

Continue reading………

Mental Health of a Large Group of Adults With Variations of Sex Development in Six European Countries.

Individuals with KS in our study seem to be the most vulnerable group. Not only were their autistic and attention difficulties high compared to the other variations but also their levels of depression and anxiety. Their self-reported anxiety, depression, ADHD and autism symptom levels were also higher when compared to the French reference population or population prevalence rates. Another paper on the general health status in the same dsd-LIFE cohort already showed that the participants with KS not only reported highest percentages of having physical problems but also psychiatric health problems (45%) and a lifetime psychiatric diagnosis (59%). Clearly, the stresses and strains of this most prevalent chromosomal aberration are extremely high.

Since the dsd-LIFE project aimed at improving the quality of life and care for people with VSD, we tried to identify possible factors associated with mental health. Shame and stigma around XY-VSD and XX-VSD conditions have been found by some to negatively influence wellbeing. In line with these studies, we found much discomfort and a reluctance to talk about the diagnosis to other people (55-70%). This shows that having a VSD diagnosis that may influence appearance, gender role, fertility, and sexuality often is still perceived as a taboo that is better kept to oneself.

Particularly in persons with the chromosomal VSD conditions TS and KS, shame was significantly associated with depressive symptoms, showing the relevance of addressing shame in clinical care. Clinicians in multidisciplinary VSD teams should therefore not only give medical advice but also support the care seekers to find a satisfying coping style with the condition. Through open and proactive communication, affected individuals may gain a sense of control and become empowered with regard to their conditions. For that reason, it is important that mental health providers are part of the VSD team. Another form of support can take place through peer counselling, that connects care seekers with persons with similar conditions and their families. Finally, educational level was correlated with autistic symptoms in participants with TS, KS and CAH. Indeed, individuals with TS and KS can have specific learning difficulties that deserve special attention to promote their psychological well- being.

Continue reading…….

The Psychosexual Effects of Klinefelter’s Syndrome

Some fascinating and one would have to believe, truthful answers to what might otherwise be perceived as uncomfortable questions surrounding the Psychosexual experiences of XXY’s. Too often missing from conversations around XXY virilisation and in more recent times an urgency to get with the program in infancy is the impact of potent sex defining hormones on an individual who might be struggling for a host of various reasons to blend into society. Parents talk of wanting a “normal child”  or if the individual is an adult XXY person, then, to be normal themselves, but, surely supplementing a body with hormones is anything but normal?

When asked if they felt different from other males, 31 respondents stated that they
did feel different. However, when asked whether their KS diagnosis affected their sense
of virility or maleness, 11 of those 31 respondents stated that it did not. An additional 2
said it only affected them a little and 1 said he was not sure. Of the other 17, who stated
that it did affect their sense of maleness, several provided some comments.

The responses to many items were consistent with the published research,
specifically, the symptoms leading to a diagnosis of KS and the school experiences of the respondents. In addition, 79% of the respondents (26) had taken T supplementation and all but 2 were still using it. Among the T users, the effectiveness varied but most found it to be at least somewhat effective especially in improving their sexual functioning.

However, there were a few who experienced significant and unacceptable or distressing side effects, such as acne, gynecomastia, gender issues, mood swings or constant sexual arousal. For those individuals, in particular, the help of a knowledgeable therapist would be very valuable.

The Psychosexual Effects of Klinefelter’s Syndrome

Understanding The Needs Of Professionals Who Provide Psychosocial Care For Children and Adults Who Are Intersex

AXYS (in particular) continue to big note just one research article that fits with their outright denial of how XXY children who are subjected to exogenous testosterone either in infancy or as adolescents show any sign of gender dysphoria, that they are simply ‘typical males’ with an extra X chromosome that outside of delaying a male puberty the second X does not have any other impact on their Sex. Yet as this research clearly points out, its seldom if ever XXY children are referred to such counselling because of the standard protocol of referring them to Neurocognitive specialists who are not trained in understanding their sex development nor, the impact such standard treatments of care can have on exacerbating underlying gender differences.

Counselling was focused on providing information in helping to understand DSD and its implications, coping and acceptance and information on disclosure. Most activities were focused on patients with 46,XX, 46,XY and chromosomal DSD, but consultation was also provided to parents and children with other rare anomalies of the genitalia and abdomen.

Children with Turner and Klinefelter syndromes were least frequently seen. As these syndromes are most prevalent among all types of DSD, with prevalence of 1:4500 (Turner syndrome28) and 1:500 (Klinefelter syndrome29), it seems likely that children and adolescents with these syndromes and their parents more often will be referred to other psychosocial caregivers with expertise in the neurocognitive problems more frequently observed in these children.

Confusion about gender and coping with cross-gender role behaviour were frequently reported resulting in emotional problems and challenges. Additionally, DSD-related anxiety and depression were also frequently seen in services. Regarding the high frequency of gender dissatisfaction, collaboration with a psychiatrist is recommended. Only a minority of the respondents collaborated with a sex therapist. Most consultations on this issue were on coping with the atypical genitalia and decision making on genital surgery, but colleagues were also consulted for questions regarding sexual functioning. Collaboration with a sex therapist, and development of expertise on sexual issues among psychosocial caregivers in DSD, is important.

LINK

If You Could See What I See

Support has always been thin on the ground, for XXY’s unwilling or unable to tolerate the standard treatment of care Testosterone, which according to a parent’s golden rulebook of what is permissible under organisational guidelines one is only entitled to support if they identify as male and take their medicine, it doesn’t matter if you Cross-dress or that you are Gay,  only that you administer Testosterone, identify as male and keep your mouth shut, unless of course you are asked a direct question in which case it was alright to answer so long as you not judgemental and refrain from using words such as “subjected” doing so results in a public flogging by administrators and those who believe themselves to be one. It seems necessary to let others know this particular line of questioning  is not welcome in forums which are made up of parents  with little kids who under the watchful gaze from a couple of adult male XXY’s, go about their business like little ants building a nest whilst warding off invaders namely those who would dare question a parents directive. Only parents and XXY confidants make it to the actual nest and even then, it’s usually only one or two XXY males, the others mostly assume they are included but really, they are not. Such inclusion is purely tokenistic and saves parents from having to deal with Adult XXY’s whose needs are not the same as their infant children. This loyalty is rewarded with a title of Adult Program Co-ordinator because it saves parents the bother of having to deal with adults whose line of questioning and interaction they so often find alarming, This ‘authoritative’ position exists only in title as the actual coordinating is carried out by parents. So basically XXY ‘support is not really being supportive at all and would be better badged as a Parents Support anything more is just a farce or worse.

Those of you reading here and are XXY or affiliated will know we are referring to the Association of X & Y Syndromes or AXYS (pronounced AXIS) as they like to be called who are experts at excluding those who don’t meet their criteria. They also intentionally conflate Intersex with Gender for the purpose of ignoring the aforementioned ‘those who are unable to tolerate Testosterone or who identify their gender as something other than male.and all for good reason. Through a well-rewarded recruitment subsidiary, they are responsible for supplying the subject matter (children) to ‘specialised’ doctors and research facilities where infants as young as eight weeks are subjected to Androgens in those early stages of life. Limited public disclosure tells us the treatment is for Micro-Phallus (but who, with the exception of XX Genotypical females doesn’t have a micropenis at that age ?) and also to offset cognitive issues such as ADHD and/or Autism, which seems rather odd when you consider populations other than XXY not in need exogenous sex defining hormones also have these issues.

Evidence on the impact of testosterone treatment on cognitive and social functions comes from two quite old observational studies both reporting a positive effect on learning, concentration, mood and social function, but no controlled trials exist in adolescent boys with KS. In contrast to these studies in boys and adolescent with KS, existing non-randomized, cross-sectional studies of boys and adults with KS have found no effect of testosterone treatment nor testosterone concentration on cognitive, social and motor functions, except a single study reporting a positive effect of testosterone treatment on verbal fluency” 

Of course this is just a pretence disguising the real intent of virilisation where the XXY person will develop  masculine features which Geneticists and Paediatricians insist are necessary if the child is to live a happy and meaningful life and just so happens to sync with a parents fear of how their child will grow up to be different, which will happen anyhow given they are not XY males and how sometimes they come to reject exogenous testosterone because it was not something by which they were a party to, meaning as infants and young children they had no say in what was expected of them.

“Many parents turn to medicine to make sense of their baby’s ‘dis’-order, find clues about the ‘true’ sex and ultimately ‘fix’ their child (Gough et al., 2008; Zeiler and Wickstrom, 2009). In this way, they contribute to the medicalisation of (XXY)  intersex by demanding medical solutions to socially uncomfortable situations. At the same time, scholars observe that it is reasonable for parents to be alarmed, and to accept, rather than challenge, prevailing dimorphic and essentialist understandings of sex, when medical professionals present them with a socio-medical emergency (Davis and Murphy, 2013). And while decisions about medical interventions are ultimately left up to the parents, they remain heavily influenced by a medical professional”

But, you would never know this if you attended an AXYS conference where parents come armed to the teeth with Facebook contacts and information relating to doctors and treatments for their newborn or adolescent children, conversations/ questions of early androgen interventions are not too unlike those one would have if buying a new commodity except in this instance we are talking of children without a voice who are then subjected to a parent and pathological idea of what it means to be a human.

“As an endocrinologist, I receive many inquiries and requests for androgen “therapy” to substitute for the missing “mini-puberty”. There is a lot of lore about this spread mostly through the internet, and many parents strongly desire this therapy in hopes of ‘normalizing’ development, especially if their child’s pediatrician will not administer it. There remains controversy whether “mini-puberty” occurs or is attenuated in boys with Klinefelter Syndrome (47XXY) compared to 46XY infants. The data simply currently does not exist concerning the effects of the “mini-puberty” on physical or cognitive development in typical 46,XY males, or whether there is any benefit in supplementing testosterone in infants with KS. This question begs double-blind, controlled trials. A second point is that the penile length in boys with KS is often less than in 46, XY boys, but not in the range of micro-penis. Borrowing from experience with boys with the latter, it is likely safe to administer testosterone enanthate or cypionate, 25 mg per dose for 3 doses given one month apart, in an attempt to increase penile length. The penis will sometimes grow and there are seemingly few side effects, including transient (but minimal) pubic hair and an increased frequency of erections

Outside of the first 4-6 months of life, there does not appear a great need for androgen therapy during childhood, for the “mini-puberty” has been completed and adolescent development is in the future. Whether androgen deficiency exists at this time (and during mini-puberty) remains controversial and unanswered”

And therein exists the loophole by which parents are queuing up to have their eight to twelve-week-old infants administered the 3 X 25mg Testosterone doses, the administration is in the form of an appetising wafer which the child gobbles down whilst the parent (usually the mother) is chatting with the doctor. Doctors frame the language around this as “Mini Puberty” and “Windows” of doing no harm which in turn translates to a parent’s language of what harm can it do? Unfortunately, such questions are never answered by those of us who would know the answer because our voices are erased from the conversation and in that place other parents usually those who are running the show are very quick to offer reassurances that early androgen interventions are the best way forward, and so the madness continues unabated…………..