thoughts and ideas about XXY

some thoughts ….

– a survey of XXY about being left-handed or right-handed

( I recently found out with help of an autism specialist that I’m actually left-handed explaining a lot of difficulties with direction of rotation since childhood)

– a survey of XXY about enhanced sensory perception (yes/no, and which senses are affected most often: hearing, visuals, taste, tactile, smell)

(there are communalities between small-scale polls in autism forums and the british XXY forum, both resulting in enhanced sensory issues with hearing and visuals)

if ADD/ADHD are rather symptoms than syndroms (about 50 % of people with autism also have ADHD, about 60 % of people with XXY have also ADHD), and mainly the result of different sensory perception…. it would mean that XXY is one of many possible conditions to obtain a different perception in general.

The idea of, e.g. self-stimulating behavior or special interests as a strategy to manage too much incoming information, social stress, sensory overload, mental overload, etc… is relatively new (but included in the latest DMS-V for diagnosing autism spectrum conditions). If both behavior (stimming and special interests) is less defined, people have to look for other „bad“ copying strategies, like frequent meltdowns, attention deficits, hyperactivity, etc…

(in the few studies about autistic symptomes in XXY, XXY reveal less special interests, repetition behavior as non-XXY autistic people, which could mean that XXY are less able to self-regulate themselves)

Attending symptoms like bad time management, organisation, planning, etc… are shared by all conditions (XXY, ADHD, autism) as a result of executive dysfunctions (something’s working wrong in the frontal lobes).

For a long time, in Germany even now, nobody thought of communalities between these conditions because all symptoms were related to the lack of testosterone. This is another fact I’m quite curious about because hormone imbalances are also reported in autism (and gender dysphoria seems to be more frequent in autism than in the general population), and some autistic women reported too high testosterone values.

I guess the discussion about these relations often stutters because of the usage of the term „autism“: Autism is highly negatively connotated. Nobody wants to be referred to. Parents are often shocked even hearing about this possibility. I approach this topic rather from bottom-up thinking. I gather as much information as possible trying to puzzle it together. I follow the principle of neurodiversity, i.e., the different perception doesn’t express a disorder but a difference. Maybe, this approach gets lost in this strong desire of having categories and stamps, coming with DSM-V and diagnosis (good read: Frances, Allen (2013). Saving Normal: An Insider’s Revolt Against Out-of-Control Psychiatric Diagnosis, DSM-5).

My intention is not to put XXY in additional categories but to destigmatize the existing categories.

Advertisements

Good terms but bad outcome?

There is an ongoing discussion about to obtain support without having a disorder. There are different terms for people with autism:

The official term is now autism spectrum disorder. People with autism tend to prefer the term autism spectrum condition sounding more value-free, without main focus on deficits. It’s also pointing towards the underlying genetic cause of autism. Everyone with autism develops different. There is no determined way for people with autism.

In a very similar way this is true for people with 47,XXY. The pure existence of an additional X doesn’t say much about his future. There are some numbers about increased probabilities of comorbid diseases or neurologic conditions but even if XXY is diagnosed before birth, nobody will know how the child will develop later. Therefore I prefer the term XXY condition for people with XXY, too.

Klinefelter syndrom is another issue, not interchangeable with XXY. Klinefelter syndrome might be called a disorder or disease because of the consequences of hypogonadism. The majority of men with Klinefelter syndrom (i.e., identifying as men) will probably suffer from enhanced breast development, small genitals as well as infertility. Some will also suffer from frequent diseases like osteoporosis or diabetes. However, it is not accurate to say all people with XXY suffer, like a mother said „my son isn’t only Klinefelter. He’s much more than it.“

So if we talk about XXY itself, we talk about XXY or XXY condition or people with XXY (condition). No offense so far.

If we talk about Klinefelter patients or people with Klinefelter syndrom, it’s used in a medical environment, talking about testosterone replacement therapy, physical traits and co-morbidities.

The main difficulty is, however, to obtain support if necessary. To get help from health care or other institutes, it’s necessary to have a diagnosis. A diagnose, however, is given in a purely negative context, i.e., something is wrong compared with the general population, like a disorder. Although we know that autism is just a different way of human being, not necessarily negative, the majority of autism experts as well as the people we usually deal with every day look at autism as a disorder. So it’s kind of a strong perception bias preventing us from using the terms we would like to use to look at us in a more value-free way, without prejudice. For support, we have to play out the card of suffering while to present ourselves in the best light we have to highlight the advantages of autistic thinking. We are forced to use a double-tracked way to succeed in everydaylife, at work, in school, etc.

Simon Baron-Cohen already wrote a long discussion about the term disability for autism in 2000:

He mentions this dichotomy in a subchapter voting for going on with the term disability to ensue special support.

Special funding does not automatically flow simply because one regards the child as ‚different‘. Given this economic reality, one should not remove the term ‚disability‘ from the description of AS/HFA without ensuring that extra provision would still be available even if the term ‚difference‘ was more appropriate. This is really an issue relating to social policy, health and education economics, and the legal system.

Moreover, his discussion is only addressed to people with Asperger’s syndrome or high functioning autism (which is another arguable term) whose assets are more obvious to the outside than in people with low functioning autism. Here is maybe the tricky part of this consideration. While the deficits of low functioning autism are quite obvious to necessitate special funding and support, the deficits of high functional autism are less obvious, and a significant number is late diagnosed.

So probably – at least at present – we depend on these negatively-loaden terms to explain why we need special support although we look like typical people, we are able to speak and we may have partners, children and even a full-time job. The more people with autism will give up hiding, spread their feelings and wishes with help of social networks and help reducing autism clichés and prejudice, the less we have to rely on labels we don’t like for us.

  • (sidenote in german: In Deutschland gibt es die autistische Störung, die Autismus-Spektrums-Störung und den Oberbegriff Krankheitsbild, manchmal wird auch von autistischer Erkrankung gesprochen. Eine treffende Entsprechung für condition ist mir noch nicht eingefallen, am ehesten noch Veranlagung, im Hinblick auf die (unbekannte) genetische Ursache. In jedem Fall sorgt alleine die Sprache im deutschsprachigen Raum für einen Schwerpunkt auf den Schwächen von Autismus und der Abweichung vom ‚Normalen‘.)

Different ways of communication

I’ll go back to XXY experiences here.

For most of the people, the typical way of discussing important things is the face-to-face way. People who are verbally not impaired prefer the verbal way of communication. They tend to refuse the written form because they assume it’s much easier just to meet and clear the issue exchanging arguments, instead of writing long e-mails and having to answer in a similar way. It costs too much time. If you’re asking therapists or coaches, they will tell you the same – it’s better to settle a difference face to face than with an e-mail or by other sorts of written communication (SMS, messenger, whatsapp, etc…).

Face-to-Face Communication is a Minefield

What I learned about myself is that communication is a minefield irrespective of the chosen form. However I struggle much more with face-to-face communication than in a written form.
When I’m face to face with a person to whom I have an important discussion (no chit-chat) where I intend to carry my point, I struggle with finding the right wording and I can’t even built complete sentences, neither in german nor in english. Auditory processing delay may contribute to losing the threads as I need time to think about what was said but discussion is already advancing and I risk to forget what has been said. I also tend to  focus on what I will say instead of listening. I often end up argueing lousy, putting up arguments which are – of course – too emotional and not fact-based enough to convince the person whom I’m talking to. It also happens that I come up with a certain intention and during the discussion I just lose the thread while talking. I’m aware of losing my thread and that the discussion runs into a false direction and runs the risk of ending up with a potential worst case scenario (i.e., I didn’t succeed but things are getting even worse after the talk) but I can’t stop it.

Shutdowns and pondering may result

After such discussions I’m often totally exhausted needing a rest in a quiet place. Hypersensitivies worsen after such ’socialising‘ and every noise and every movement in my surroundings are just too much. I feel the strong impulse to withdraw and I have to avoid crowds of people not to run into a panic attack. Sometimes, I become silent and I don’t want to answer or to speak for hours (shutdown). In other cases, I tend to become very sarcastic, and people are wondering about my choice of words, especially when sarcasm is inappropriate in that situation. After worst case scenario discussions I have a long time upcoming when I think about the course of the discussion and what I should have said instead. Ruminating about the correct choice of words and arguments is a typical consequence of face-to-face discussions. I know that from other XXY people, too.

Distractions contribute to lose the threads

Communication for many of us means for the counterpart they need to give us more time. While our minds are stuffed with thoughts, with many options and arguments, expressing our thoughts is delayed. Word finding is often an issue, and bad short-term memory prevents us from recalling the facts-based arguments. If you can’t avoid a face-to-face discussion, it seems to be appropriate to take notes as much as possible. Bring notes to recall your arguments and take notes from the counterpart to remember important statements. Depending on the surroundings we also highly suffer from distractions. People talking simultaneously, construction noise, a vacuum cleaner, ticking clocks, a radio playing  in the background – this noise may be highly distracting and contributes to quickly losing the thread in a discussion. The same holds for interruptions when another person enters the room and wants something.

Body language and facial expressions might be misleading – for both

Besides distractions and losing threads, we have difficulties recognizing facial expressions. We are able to distinguish between good (happy) and bad (angry, sad) faces but we have great difficulties distinguishing between angry and sad faces. In an important discussion we might miss the point when we should stop argueing before situation escalates.  The message carried out by our own facial expression might differ from the things we actually say and may confuse the counterpart. It may end up that the counterpart doesn’t believe us when we try to argue and body language and facial expressions look guilty or we even smile accidently while talking about something serious.

As said in the beginning, face-to-face communication is a minefield for MANY of us. I still want to emphasize that MANY XXY struggle with similar problems but not ALL.

Main advantages for writing are …

  • It allows me to gather my thoughts and speak without getting upset.
  • It allows me to think about what I’d like to argue for, and I also have time to think about the answer before answering myself.
  • I have the chance to bring my arguments step by step, without the risk to loose my thread.
  • I’m not distracted by the surroundings or by misleading facial expressions (I don’t notice when someone is pretending an attitude).
  • I have notes which are easy to recall while verbal statements may be lost after a short time.

Of course, I’m aware of the advantages of face to face but these advantages aren’t valid for ME. I also know I can’t avoid the disadvantages of writing, like misleading statements because the counterpart doesn’t see my face and body language (probably better, he/she doesn’t) while making this statement. He might interpret it in a wrong and potentially damaging way for our relationship, depending on his picture (and prejudice) about me. Verbally communicating people dislike writing because it costs time. Why write a long e-mail when you could simply make a phone call or meet the other person in place?

Different is not worse!

Last point which is important for me… I described different ways of communicating, neither a right nor a wrong way to do it. In my opinion, both ways are valid and value-free. There are much more people out there preferring writing, like people with autism (especially the nonspeaking ones), people with mutism, deaf people. You could even have had a disease preventing you from talking. No matter what reasons or causes let you prefer writing instead of verbal communication – it’s a legitimate form of communication.

Myths and facts about Klinefelter syndrome

Parents …

may see the infertility as their greatest concern, oftentimes as a reason to abort given a prenatal gene test before birth. Further obvious difficulties are learning difficulties, less interest in the interaction with peers and partly bullying during school because of a feminine body shape and increast breast tissue development as well as behaviorial issues.

Medical specialists …

tend to equate the karyotype 47,XXY and Klinefelter’s syndrom, and as a result a lack of testosterone which needs to be treated. The hormone deficit is in the foreground and explains most of the effects like shyness, depression, difficulties with peers as well as osteoporose and metabolic syndrome. They often assume that XXY identify themselves as men and want to be masculinized by testosterone supplement therapy.

Employers and colleagues …

are often unfamilar with the effects of Klinefelter’s syndrome and prefer a look at wikipedia. However wikipedia and other sites do not always inform about the genetic origin and its large spectrum of different effects. Main risk is that they assume all effects were present and they do not check its validity for each individual XXY person. Moreover, they will likely think testosterone deficit is the core symptom and hormone replacement treatment will be sufficient to treat anything negative in the person, or which is interpreted as negative (not every derivation from the norm is necessarily a deficit). If deficits are present, they may be compensated by strengths which may be relevant for employers as well but talking about Klinefelter’s syndrome implies talking about deficits and disabilities. XXY is more than a deficit – it’s just a different way of being.

XXY themselves …

  • got luck and do feel barely any effects of having a second X
  • feel effects but do not know the reason for it (large number of unknown cases)
  • feel effects and know about the diagnosis but do nothing more than testosterone treatment because they think it’s sufficient (correct for some, not for all)
  • feel effects and suffer from not having specialists and other XXY people to share knowledge and questions
  • disclose to others and seek for open exchange with XXY peers and specialists

And what about me?

My picture of Klinefelter Syndrome changed over the recent eleven months quite a lot, and now I’m not even sure what it is exactly and which associations are given between different causes and effects. I try to separate because I think it’s for nothing to stuff as much symptoms as possible into the umbrella Klinefelter syndrome or XXY, and XXY individuals have only a few but not all of these symptoms. Another XXY person will not identify with these symptoms and might be afraid of to be stigmatized for something he actually has not.

My current state of knowledge, basing upon the collected references of about 70 scientific papers, exchange with other XXY and relatives as well as researchers and physicians:

Please keep in mind I’m not a doctor and I can’t guarantee there is a state of latest research different to my current knowledge.

1. The genetic signature 47,XXY is the sharing feature of us, except for the mosaic form 46,XY/47,XXY

2. Klinefelter’s syndrom is the description of physical symptoms in nine (9!) men by the first report of Harry Klinefelter in 1942.

3. Hypogonadism (low testosterone values) are present in nearly all XXY people as a result of the second X chromosome. Which genes are causing hypogonadism? Still unknown.

4. Low testosterone values cause decreased attention and libido, increased tiredness, mood swings, enhanced tendency for depressions, and infertility (in interaction with overproduction of the sex hormones FSH and LH)

5. Partly genetic, partly hormonal effects produce a female-like fat/muscle distribution and different body composit as well as enhanced risk for osteoporosis and metabolic syndrom.

6. Rather due to genetics than to hormonal effects are problems with executive functions, e.g. bad short-term memory, impuls control and target-orientated action and sensory integration disorder (gross and fine motorics, oversensitivity to incoming stimuli), as well as dyslexia

7. Deficits of executive functions and sensory integration disorder play a major role in psychiatric conditions like ADHD, autism and schizophrenia whereas Klinefelter’s syndrom is mainly seen in connection with testosterone deficits.

8. Testosterone deficit does not evolve before puberty, with exception of the missing mini-puberty in the first three months after birth (not every XXY is missing that period when testosterone levels rise to adulthood levels for a very short time). Some adults even have normal testosterone values (who defines normal? from a XY perspective? Is XY also valid for XXY? What is normal for us?). For intersexual and female XXY, testosterone deficit may even be the wrong term. They just have low testosterone values and may start estrogen therapy later. There are also XXY males who agree with their female characteristics and traits and do not consider low testosterone values as a deficit. They would even put up with health issues due to the low values instead of losing their identity. If neither gender nor identity argue for a testosterone deficit, the XXY person should not be considered to have Klinefelter’s syndrome.

9. Deficits in language skills, verbal expression and in communication in general are often compensated by thinking in pictures or patterns as well as enhanced detail perception.

What’s the difference between my approach and the common medical approach?

I do not start with a testosterone deficit but with a genetic condition (as a neutral judgement, without moral evaluation).

All further effects are the consequence of a genetic condition but not of a syndrome encompassing  different causes – both genetics AND hormones.
Overview:The list above is not complete but should serve as a rough simplification of my way of thinking about XXY. The term Klinefelter’s syndrom is removed from that overview because it’s only a part of all these circles and just a cut-set in the list. There is no case with a 100 % concurrence as even testosterone deficit is not the accurate term for female XXY.In a strict sense, the listed characteristics are part of the diversity of the genetic condition XXY which may also present in all people with normal chromosome numbers.The additional X only enhances the prevalence for these characteristics.

If you’re asked what you have and how to explain it …. instead of saying „I have Klinefelter’s syndrome“ you may say

I have lower testosterone values, a different metabolism, a different perception (sensory gating disorder) and another way of thinking. They are the result of my genetic condition.

The genetic condition already comprises the hormonal effects which will appear differently in individual XXY persons.

7 months of research: a personal review

This blog entry is a translation of „Über 8000 Zugriffe: Zeit für ein Resumee“.

I started researching XXY in April 2014 and began this blog on 8th May 2014. The most surprising facts have been the following:

XXY is not necessarily Klinefelter’s syndrome

Klinefelter’s syndrome describes possible effects of testosterone deficit. In addition to that, a certain number of people with additional X chromosome are not suited for testosterone replacement therapy (TRT) because they have normal testosterone values, they are happy with their body or they do not even identify as males. The only communality is the additional X chromosome. Moreover it should be emphasized that XXY people are more than just a syndrome (as the term „Klinefelter males“ suggests), they have strengths.

Emotional distress is not exclusively connected to testosterone deficit and infertility

Different polls and studies revealed the association between depressions and testosterone deficit is rather indirectly given. TRT improves energy, endurance and general well-being with most (not all) XXY but serious effects may arise from communication difficulties like identification of facial expressions (e.g. sad versus angry) and interpreting tone of the voice (prosody). Misunderstandings and difficulties to maintain relationship with others often result. Research also showed that the ability to put oneself in the other’s shoes („theory of mind“) is also impaired but mainly „for the moment“ as processing time is delayed in XXY. Impaired impulse control and executive functions (consequences of actions, processing new information, sudden changes) add to the daily challenges of many XXY.

Many XXY have sensory gating disorder

Polls in XXY forums and groups, personal communication and my own experience, as well as at least one research study suggest enhanced prevalence for sensory gating disorder in XXY, in a wider sense called as sensory processing disorder encompassing sense of balance as well as motoric skills. The most affected sense seem to be hearing (oversensitivity to noise) and vision (sensitivty to flickering and bright light) but occasionally touch and smell are also reported.

Psychiatric diagnoses like ADHD and autism have higher prevalence in XXY

Commonly, a large number of unknown XXY cases is assumed to be present and it is difficult to estimate the overall number of co-morbid ADHD, autism and further psychiatric conditions. Depending on studies (mostly with relatively small numbers of participants and lacking statistical evidence), 60-80 % of XXY have additional ADHD, with about 50 % inattentive subtype (quiet, not hyperactive but often distracted). In 30-50 %, autism spectrum disorder (ASD) is diagnosed – with all subtypes like PDD-NOS (e.g. 30 % in the Netherlands), Asperger’s syndrome as well as high functional autism – which gives further evidence that intelligence in XXY is not lower but even higher than average.

There is a study about stigmatization of children with ADHD through labels which reveals that parents are mostly concerned about the symptomes but the diagnose itself barely enhances the stigma. The possibility to benefit from therapeutical support and services compensates this fear.

According to DSM-V and latest research (see e.g. Temple Grandin, The autistic brain), sensory gating disorder, avoiding eye contact and executive dysfunctions are core symptomes of autism. It might be assumed that the majority of XXY therefore shows autistic-like symptomes and traits and are rather on the autistic spectrum than on the neurotypical spectrum (feel free to test yourself here).

Conflicting information about the use of testosterone injections versus transdermal (gel) applications

Current state for me has been the statement that viable sperm is mostly available during puberty and adolesence but this ability will be increasingly lost between 20 and 30. US studies show viable sperm even in adulthood which partly depends on the application before. Injections result in too rapid increasing testosterone values killing remnant sperms while gel application provides lower but constant doses. In USA, aromatase inhibitors are used together with TRT. Aromatase is an enzyme converting testosterone into estrogen (called aromatization). Increasing estrogen increases the risk of gynecomastia and breast tumors. Moreover, inhibited conversion increases endogenous testosterone production helping to maintain fertility with XXY. So far, aromatase inhibitors are used with off-label indication, though, and possible side effects do not seem well studied. Injections show another disadvantage as sudden rise and subsequent decline might favour mood swings (instead of fighting them).

Lack of longitudinal studes in all areas of XXY

Considering possible effects of testosterone deficit in XXY, like diabetes, osteoporosis, poor muscle mass as well as social behavior and general well-being, statistic significant long-term studies are missing so far. Most studies refer to cross-sections (at a certain point of time) but with inhomogenous treatment. The only long-term study has not been controlled by placebos.  Most indications for improvements by TRT refer to men with normal chromosome type (46,XY). Anecdotal evidence is also given for XXY males with respect to libido, energy, endurance and attention.

Negative feedback can be mostly deduced to incompetent medical treatment (lacking knowledge of the physician) as XXY specials are rather seldom worldwide. The few XXY specialists have only few XXY patients and might underestimate the degree of the XXY spectrum. Inappropiate treatment also occurres with XXY who do not identify as males.

Intersexuality might be but has not to be present

Leading associations and support groups often ignore this taboo: In contrast to XY, XXY humans rather have a female body composition and tend to be emotionally more sensitive than XY males. Intersexuality might be present anatomically but also males who do not idenfity as males.  They all belong to the XXY spectrum and discussion about intersexuality should not be excluded in support groups and organisations.

Both genes and hormones serve as cause for XXY traits

A large number of genes is situated on the X chromosome influencing the neural brain development. The second X chromosome with remaining active genes enhances the number of active X chromosome genes in general (so-called gene dosage effect). Further genes have been identified to affect the physical phenotype of XXY.

Regarding testosterone deficit, there are barely any measurements of prenatal testosterone values. Anecdotal evidence exists for testosterone deficit during mini puberty (small penis and missing genitals) in the first three months after birth, as well as during puberty and later in adulthood. Evidence for testosterone deficit in fetus might be given by measuring the 2D:4D ratio of finger lengths. It correlates with the relation of estradiol to testosterone during fetus stage. A more reliable estimations originates from measuring the ano-scrotal distance. Studies show conflicting results, though. 

Conclusion:

Independent of temporal occurrence of testosterone deficit, the second X chromosome is always present and researchers still do not know which genes are still active and responsible for the diversity of the XXY spectrum, e.g. XXY showing strong testosterone deficits and weak deficits, showing strong and weak autistic traits, some having gynecomastia and dyslexia and others not.

Both genes and hormones contribute to the brain development and brain differences have also been found in XXY.

Certain strengths and talents seem to be more prevalent in XXY

XXY pay more attentation to details, tend to think in pictures or patterns, and are often creative people. Deficits in communication and social interaction with peers might result in strengths like attending to special interests and becoming experts in their fields. XXY are mathematicians, graphic designers, photographers, artists and musicians as well as engineers. Apart from their profession, XXY are often said to be more sensitive, having a great sense for social injustice, honesty (to the degree of bluntness), long-term memory as well as love to animals.

Summary

XXY is a genetic variation adding another facet of diversity to XX and XY. XXY often comes along with sensory processing disorders affecting one or more senses. Sensory gating disorder also allows for a sharpened glance to details and is possibly responsible for improved long-term memory skills anchoring the information. As a result, XXY may accumulate large amounts of knowledge in their area of interest (too much incoming information needs large memory storage).

Only few of us will be able to reproduce, to forward genes but – in the context of advocates for abortion and prenatal gene tests – we still have a right to live! Parents will never decide FOR their kids whether they want to have kids later, neither with XX nor with XY. Having kids will be the private matter of the kid. Some XXY decide for donor sperm or adoption. Nature always finds a way raising children – even if it’s not the own child.

My hope and engagement for the future:

I wish an open-minded and frank discussion within the XXY spectrum but also between XXY and practising physicians. Scientific evidence is given that XXY is much more than what is told by many local support groups and testosterone treatment appears to be more complex than suggested by specialists. In some countries like the Netherlands, specialists already work together successfully, i.e., researchers, psychiatrists, psychologists, endocrinologists and urologists and neurologists. XXY is more than just replacing a hormone deficit. Its certainly not a one-size-fits-all condition. We need individual treatment! Confidence in the treatment is very important and sometimes the sole sheet anchor for XXY who have to deal with difficulties at so many levels. The most important thing for me is, however, being appreciated for my strengths and talents. Comprehension and accomodation make it easier to overcome the difficulties in communication and interaction.