47,XXY – nach meinem Verständnis …

Auf diesem Blog ist es ruhig geworden, vor allem mangels neuen Erkenntnissen, aber auch der deprimierten Feststellung, dass sich am geringen Wissensstand über Klinefelter seitens der Ärzte wenig ändern wird. In Österreich gilt das noch mehr als in Deutschland, weil Österreich ein medizinisches Entwicklungsland ist. Sich seinen (neuen) Ärzten bezüglich neuen Erkenntnissen über Klinefelter und zusätzlicher Diagnosen mitzuteilen, ist auf mündlichem Weg fast nicht möglich. Die Katze beißt sich hier natürlich in den Schwanz, denn mit einer kommunikativen Störung fällt es mir noch schwerer, in wenigen Worten auf den Punkt zu kommen. Ich müsste zu weit ausholen und kein Arzt nimmt sich soviel Zeit für mich. Lediglich auf schriftlichem Weg kann ich darauf hinweisen, wobei ich dabei Gefahr laufe, zu ausschweifend zu schreiben.

Eine weitere Frage, die ich sehr früh hier thematisiert habe, ist, ob man sich seinem Arbeitgeber gegenüber outen soll. Anfangs habe ich das neutral gesehen, inzwischen glaube ich, dass die Vorgesetzten von so einer Diagnose heillos überfordert und unnötige Ängste und Vorurteile geschürt werden. Für mich persönlich haben die -als typisch geltenden – Auswirkungen des Klinefelter-Syndroms und auch die damit verbundene Therapie, die Testosteronzufuhr, keinen direkten Einfluss auf meine Leistungsfähigkeit. Wie viele X-Chromosomen ich besitze, merkt man mir in der Arbeit nicht an. Ob ich Kinder kriegen kann, und warum ich so dünne Arme habe, spielt keine Rolle, allenfalls ist man wiederkehrend mit den schmerzhaften Aussagen kommentiert „Auch Du wirst irgendwann Familie haben.“ oder „Warte mal, bis Du Kinder hast.“, etc… Man weiß genau, dass das nie der Fall sein wird, außer man findet eine Partnerin mit Kindern. Über das Klinefelter-Syndrom ist öffentlich NICHTS bekannt. Wiederkehrende Artikel in diversen Print- und Online-Medien fokussieren rein auf die Unfruchtbarkeit und auf den Mangel an männlichen Merkmalen – nichts, worüber man gerne mit Kollegen und Vorgesetzten sprechen oder gar als Einstieg für eine Offenlegung benutzen möchte. Die Hintergründe dieses Syndroms sind so komplex, dass es wissenschaftlich noch nicht komplett erforscht, geschweige denn verstanden wurde. Wie soll man etwas erklären, was nicht erklärbar ist?

Als ich hier anfing zu bloggen, stieß ich zuvor erstmals auf einen für mich bahnbrechenden Artikel über einen Zusammenhang zwischen Klinefelter und Autismus. Ich passte nicht ins Schema F vieler Klinefelter-Betroffene und konnte mich mit diesen nicht identifizieren. Mit Autismus bzw. dem Asperger-Syndrom konnte ich es. Inzwischen, drei Jahre später, kenne ich *einige* Fälle, wo beides auftritt. Heute stieß ich auf einen Zeitungsartikel in der seriösen britischen Zeitung „The Guardian“ (abgerufen am 10.7.2017):

„Felix has a genetic disorder, Klinefelter syndrome, and is on the autism spectrum, meaning he struggles to deal with sensory overload. The stench – along with an unwelcome night-time accompaniment of jackhammers and concrete saws – sends him into meltdown.

“The constant noise, the constant smell – it actually is having such an impact,” Waters said. “He will literally throw himself on the floor and have a tantrum because to him this is an overwhelming sensory impact. He doesn’t have the cognitive ability to say this will go away in a day or so. He’s trapped in his own mind.”

Der Betroffene hat das Klinefelter-Syndrom und ist im autistischen Spektrum, d.h., er hat Probleme im Umgang mit Reizüberflutung. Ständiger Lärm und Gestank bedeuten für ohne einen überwältigenden sensorischen Einfluss, sodass er sich regelrecht auf den Boden wirft und einen Wutanfall bekommt. Er besitzt nicht die kognitive Fähigkeit zu sagen, dass es nach einem Tag oder so weggehen wird. Er ist in seinen eigenen Gedanken gefangen.

Erdrückende Belege für einen genetischen Zusammenhang:

Ich möchte nachfolgend erläutern, weshalb ich die folgenden Abbildungen für so wichtig halte.

1 Autismus-Spektrum-Fragebogen

Das Setting ist einfach: Eine Kontrollgruppe (gemeint sind Menschen mit normaler Chromosomenanzahl) und Klinefelter-Männer wurden mit dem autistischen Fragebogen (AQ nach Baron-Cohen) getestet. Der Schwellenwert, ab dem ein Screening für Autismus in Betracht gezogen werden sollte, liegt bei 26. Die Kontrollgruppe schnitt durchwegs unter 26 ab, die Mehrheit unter 15. Die Klinefelter-Personen hingegen mehrheitlich über 20, meist über 25.

totalscore_autism_spectrum_questionnaire_rijn_2008

Van Rijn S. et al., Social Behaviour and autistic traits in a sex chromosomal disorder: Klinefelter (47 XXY) syndrome, J Autism Dev Disord, 2008, 38: 1634-1641

2 ADI-R Score: Die Kernbereiche von Autismus

Domain I betrifft soziale Interaktion, Domain II Kommunikation und Domain III stereotype, wiederkehrende Verhaltensmuster/Interessen. Untersucht wurden 51 Klinefelter-Personen. Es hat sich gezeigt, dass Klinefelter-Personen in den beiden Kernbereichen von Autismus, Kommunikation und Interaktion, gleichermaßen betroffen sind. Im Gegensatz zum klassischen Autismus (also keine bekannte genetische Ursache) sind eingeschränkte Verhaltensmuster schwächer betroffen. Das kann bedeuten: Sie zeigen ihren Autismus seltener nach außen, indem sie weniger mit den Händen flattern, zappeln, schaukeln, weniger eng begrenzte Interessensgebiete aufweisen, etc. Für die Diagnose kann das jedoch heißen, dass Klinefelter-Autisten häufiger unerkannt bleiben, weil sie nicht die typischen nach außen hin sichtbaren autistischen Merkmale zeigen.

Fig 1. ADI-R-Score

Quelle: Bruining H. et al., Psychiatric Characteristics in a self-selected sample of boys with Klinefelter Syndrome, Pediatrics, 2009, 123, e865

3 Überschneidungen von Klinefelter mit Autismus

Ein Leitartikel von Lehnhardt et al (2013) geht über typische Autismus-Symptome. Ich habe damals typische Beschreibungen von Klinefelter-Kindern mit denen in der Tabelle verglichen und kam zu dem verblüffenden Ergebnis, dass in allen Punkten eine Übereinstimmung besteht:

img68903022

Quelle: Lehnhardt et al., Diagnostik und Differential-Diagnose des Asperger-Syndroms im Erwachsenenalter, Dtsch Arztebl Int., 2013, 10 (45): 755-763

Für Erwachsene sieht das anhand zahlreicher Beispiele in der Symptomatik so aus:

asperger-symptome-springer

Quelle: http://www.springermedizin.at/artikel/16431-das-asperger-syndrom-bei-erwachsenen

4 Einordnung von Personen mit zusätzlichen X-Chromosomen im autistischen Spektrum

Hier hat man Mädchen und Buben mit zusätzlichem X-Chromosom zusammengefasst, also sowohl 47,XXX als auch 47,XXY. Es gibt zwischen beiden Gruppen einige Übereinstimmungen, was darauf hinweist, dass nicht das Testosteron(defizit) hier den Unterschied macht, sondern das zusätzliche X-Chromosom die entscheidende Rolle spielt. Autismus ist keine Ja/Nein-Frage, sondern eine dimensionale Größe, d.h., sie reicht von vollkommen unautistisch bis schwer autistisch. Der SRS-Score (Social Responsiveness Score) gibt die Anzahl der autistischen Verhaltensweisen an, der Schwellenwert für eine Autismus-Diagnose liegt bei 70:

Autisten ohne zusätzliches X-Chromosom („ASD“) befinden sich mit 95 deutlich darüber.

Die nichtautistische Kontrollgruppe liegt mit 25 weit darunter.

Die XXX/XXY-Gruppe erreicht mit 65 einen Wert knapp unter dem Schwellenwert. Sie befinden sich also im Durchschnitt viel näher an einer Autismus-Diagnose als an einer Nicht-Diagnose.

11202883_471923066309486_612932664435307854_n

Quelle: Auswirkung des zusätzlichen X-Chromosoms

Ich stelle die These auf, dass Klinefelter lediglich eine von mehreren Auswirkungen des zusätzlichen X-Chromosoms ist. Klinefelter ist nicht 47,XXY und 47,XXY ist nicht Klinefelter. Bei jenen 47,XXY-Betroffenen, die nicht autistisch sind oder so wenig autistische Merkmale aufweisen, dass sie nicht für eine Autismus-Diagnostik in Frage kommen, hängt es von der Aktivität der Gene auf dem zweiten X-Chromosom ab.

Meine Literaturliste zu 47,XXY/Klinefelter-Syndrom ist die wahrscheinlich umfangreichste im deutschsprachigen (und englischsprachigen) Raum. Im Gegensatz zu den Fachleuten bin ich nicht an einen spezifischen Fachbereich gebunden und sehe leichter unerwartete Verbindungen zu den anderen Ursachen und Auswirkungen. Dafür mangelt es mir natürlich an Tiefe in den Fachgebieten selbst und am Verständnis komplexer genetischer und neurologischer Zusammenhänge.

Aufgrunddessen halte ich es in meinem eigenen Fall für zielführender, die Asperger-Thematik anzusprechen, wenn es um Offenlegung von Diagnosen geht. Strenggenommen fußt meine Asperger-Diagnose auf dem zweiten X-Chromosom, aber Ursachen interessieren die wenigsten, die Auswirkungen sind das Thema und da besteht in der Literatur eine Fülle an Material über Asperger, aber nahezu nichts (Verständliches) über Klinefelter.

So, ich möchte meine Leser nicht mit meinen Ausschweifungen über Asperger langweilen, weil das ja nicht alle Auswirkungen bei 47,XXY betrifft.

Darum noch kurz zu den physischen Aspekten dieser Diagnose. Idealerweise finden die hier geschilderten Kontrollen statt. In der Praxis wissen aber sehr viele Ärzte nicht, dass die bloße Zugabe von Testosteron etwa nicht ausreicht, um den Abbau der Knochendichte zu verzögern (aufhalten lässt er sich leider nicht), sondern eine zusätzliche Gabe von Vitamin-D notwendig ist. Ansonsten gilt zur Therapie gegen Knochenschwund das, was man bei vielen Erkrankungen des Bewegungsapparats empfiehlt: Viel Bewegung, genügend trinken, wenig/kein Alkohol und gesund ernähren. Das betrifft gleichermaßen das Risiko aufgrund des gestörten Fettstoffwechsels an Diabetes zu erkranken. Über Chancen und Risiken einer Testosterontherapie, auch im Hinblick auf die Genderidentität und bei intersexuellen Betroffenen (wenige, aber vorhanden), habe ich hier ausführlich geschrieben. Eine leichte Entscheidung, frühzeitig mit Testosteron zu beginnen, ist es nie. Randnotiz: Subjektiv kommt mir vor, als sehe ich heute im Alltag wesentlich mehr Menschen mit – auf den ersten Blick – unklarer Genderidentität, sprich, man weiß nicht, obs ein Manderl oder Weiberl ist, also noch vor zwanzig Jahren. Die Gesellschaft öffnet sich und das Angebot für Betroffene wächst, wie hier in Österreich.

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Experience with disclosure – a mixed blessing

As written by Mamma Bluette, I don’t think it’s necessary to disclose our special physical characteristics…. That’s pure personal stuff and should be left as such.  One of the greatest difficulties for most of us XXY people is: Nobody ever heared of it…. except for some few lines during biology in school or when chromosome aneuploidies were brought up during medical school. Even if you tell them about XXY or Klinefelter, there isn’t any serious source to rely on…

  • it’s difficult explaining something when only few studies are known, and much fewer about XXY adults.
  • the Internet is full of shit about Klinefelter, much outdated and misleading information.
  • the people to whom you’re disclosing are not interested or don’t want to deal with it after your disclosure, because they are overstrained or don’t know how to react on you being so open
  • disclosure might be interpreted as an excuse (instead of a reason)

If I had known earlier, I would have probably chosen other words than in my very first disclosure. What appeared relatively reasonable for me, has been confusing for the people to whom I disclosed. Maybe the first mistake…. I thought most of my problems originated from the lack of testosterone and the hormone replacement therapy would cure it.

I didn’t expect Klinefelter’s syndrome to be one of MANY possible sideeffects of having an extra X chromosome. I didn’t expect to be autistic and that XXY strongly favours a diagnosis within the autistic spectrum (varying from high-functional, Asperger’s to not otherwise specified, PDD-NOS). Though it’s called mild autism, I don’t feel anything mild in it. It’s not really helpful to compare my degree of autism with other autistics who look clearly more autistic from the outside. I also know that my autism is different from idiopathic autism, i.e. when the cause is still unknown. XXY autism tends to be less pronounced with repetitive behavior and stereotypes but also more towards anxiety disorders. XXY generally tend to reveal a more female-like (autistic) phenotype, which sounds reasonable given the additional X chromosome. But that’s only  my personal interpretation of my behavior and anecdotal evidence of other XXY.

What it makes really difficult for me …. I don’t fit in… neither in typical males, typical autistics (according to a smattering of knowledge coming from media reports and cliché-driving movies) nor in typical XXY. So whenever I’m compared with autistic people, I’m different. Whenever I’m compared with XXY people, I’m different. It seems as if I have parts of each condition in me but do not fulfill all criteria… the least to the outside. Given the case, a XXY individum is also autistic, it’s even more difficult to disclose since much less is known about XXY and we are often reduced to our physical appearances and testosterone deficits.

The reason for which I disclosed has been strong psychological strain. I couldn’t think about right or wrong in that period of my life when everything seemed to crash. I disclosed having XXY/Klinefelter and tried to explain my autistic behavior (without calling it so). I failed, very likely misunderstood as looking for an excuse. Though I tried hard to understand what is actually going on with me…. it’s not so simple… I have to rethink the entire past which is a still ongoing process.

One of the most prominent arguments against disclosure: If you disclose, you will be teased or even dismissed.

Yes, these cases occurred. However, many people with XXY/autism experience it even without disclosure. It won’t make any difference. I decided to be open about it…. because there is no other way to remove clichés, and I’ll have difficulties anyway… even knowing the reason doesn’t mean you can switch off your problems.

My goal is that people with Klinefelter’s syndrome are received as people first. People with extra X also allowing for strengths and talents.

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.

Knowledge is Strength/Wissen ist Macht

Der Weg ist noch lang, um zu enthüllen, was sich unter meiner Persönlichkeit verbirgt. Zerstreuung hat für mich eine andere Bedeutung als für Gleichaltrige. Erholung kann sowohl Entspannung, Nichtstun oder sich zerstreuen sein. Für mich ist Zerstreuung kreativ sein. Ich liebe es, Wanderpläne zu schmieden, zu fotografieren oder einfach herumzugehen und Streetfotos zu machen. Der entspannende Teil danach ist die Bearbeitung und Verbesserung der Bilder. Ich kann das mehrere Stunden ohne Unterbrechung machen. Wanderberichte schreiben ist ebenso eine Möglichkeit abzuschalten. Ein gemeinsamer Schnittpunkt nahezu all meiner Freizeitinteressen ist die Forschung. Nicht nur Wandern, Landschaften oder Streetfotografie, sondern auch Architektur und ein Blog wie dieser. Ich liebe es, Muster zu identifizieren, historische Daten herauszusuchen, Geschichte selbst zu lesen und Verbindungen zu verstehen. Der Grund für diesen Blog war, dass ich nicht alle Aspekte meiner Persönlichkeit im sogenannten Klinefelter-Syndrom wiederfinden kann, das – wie ich heute glaube – nur die körperlichen Eigenschaften beschreibt, während Komorbiditäten die resultierende Persönlichkeit erklären, und eben nicht nur Defizite, sondern auch Stärken.

Forschen und Informationen sammeln, die eine große Bandbreite abdecken, ist der entspannende Teil meiner Freizeitaktivitäten. Befriedigung kommt auf, wenn ich in der Lage bin, diese Informationen in verständliche Artikel zu komprimieren. Ich denke, da ist nichts falsches daran, wenn sich jemand dadurch entspannt, in der Welt der Wissenschaft und Forschung versunken zu sein. Es bedeutet lediglich, seine Schwächen und Stärken in eine angemessenere Beziehung zueinander zu setzen, was nicht mir einem selbst, sondern auch anderen weiterhilft.

Meine neueste Forschung widmete sich der Reizüberflutung bei XXY-Männern, wo ich versucht habe, mehr über Reizfilterschwäche (Überreizung durch Informationen, unabhängig davon, ob es sich um sensorische Reize oder um verbale/schriftliche Informationen handelt) herauszufinden.

Mich interessiert es sehr, ob es mehr XXY-diagnostizierte Männer gibt, die unter Reizüberflutung leiden, z.B. durch Hintergrundlärm, Verkehrslärm, Menschengruppen und einem Gespräch folgen, wenn Hintergrundlärm vorhanden ist. Habt ihr auch weitere sensorische Reizüberflutungen, etwa durch Hitze/Kälte, Schmerz, Licht, Stoff, etc?

Ich freue mich auf Eure Kommentare!

***

It’s a long way to go. To reveal the complexity beneath my personality. Distraction has a different meaning for me compared with peers. Recreation could be the result of relaxing, doing just nothing or just for distraction. For me, distraction is creativity. I love making hiking plans, I love photography, just walking around and shooting street photos. The relaxing part thereafter is editing and improving pictures. I am able to edit several hours in a row. Writing hiking reports is recreative, too. One sharing part of nearly all of my freetime interests is research. Not only with hiking, landscape or street photography but also with architecture and a blog like this one. I just like to look for patterns, historical dates, history itself and understand connections. The reason for this blog is I could not discover all aspects of my personality in so-called Klinefelter’s syndrom which – I believe now – only describes a physical condition while comorbidities might explain the subsequent personality, not only deficits but also strengths.

Research and collecting information covering a wide range of topics is the recreative part of my spare-time activity. Satisfaction arises when I am able to condense that information into comprehensible articles.  I think there is nothing wrong when someone’s recreation expresses  as being immersed in the world of science and research. It’s just the power to put deficits and strengths in a more appropiate relationship eventually help for himself and others.

My latest research addressed to sensory overload issues with XXY males, where I tried to find answers to the question of reduced sensory gating (overload of incoming information irrespective of sensorial impulses or verbal/written information). I would be glad to know if there are more XXY-diagnosed men experiencing sensory overload like difficulties with background noise, traffic noise, groups of people and listening while there is background noise.
Do further sensory impulses exist like sensitivity to temperature, pain, light, textures, etc.?

Feel free to comment below this article!

Discovering myself

Since I know there is much more about this additional X-chromosome than testosterone deficit, three months are gone and now I see myself with different eyes.

That new episode of life startet with a scientific paper which I luckily received in full text form. I always had a suspicion being different. I also could not recognize myself in many symptoms of  Klinefelter’s diagnosis. However, I had trouble putting words to it. Of course, I noticed all over the years not getting ahead. Communication has often been doomed to failure. Difficulties arose when I expressed feelings, especially expressing them in a way to be understood. Reluctance to be interested in what peers do and talk about. I also think about assets going beyond the line which would be typical for peers but occasionally became obsessive.

I always occupied myself in an excessive way. Hours and hours, several days. Social contacts became secondary. Better writing another case study to a scientific event, putting another paper on the website. I loved exhaustively researching, spending much time although it was not demanded by my professors during studies. I always did much more for topics I was interested in. I came out of my shell and contacted even external teachers because I liked writing, I enjoyed realizing my english language knowledge.

Feedback encouraged me to continue. It’s the main reason I don’t have much respect to write e-mails to psychologists, physicians and geneticists, just by chance, as most of them will answer.
I realized my strengths by creating two wonderful websites providing a compendium of my special interest which is divided in several subinterests. I could fill books with it.

That passion of writing and irrepressible urge to inform is an important part of myself I cannot exclude. It is not what is commonly accepted for Klinefelter’s syndrome: „Learning difficulties, dyslexia, …“ In contrast, I read since I think and I write since I read. If I were able to set up dialogues, I would have become a professional writer. Sadly I could never imagine how a typical dialogue looks like as I was not able to take the other one’s perspective. Theory of mind – again and again putting a spoke in my wheel. Anyway, my passion to write did not lessen, it rather shifted from fiction to describing everyday life which is exciting enough instead of creating fictional stories.

The result of my IQ test in childhood suggested skills in natural science and weakness in language. In fact, my grades revealed the opposite. My processing time in nature science was too slow to keep up with peers, to solve problems – at least I suppose it now. In contrast, I felt comfortable with languages. I was the only man choosing french (instead of english) for intensive course. Speech has been much more difficult than writing and reading. Logical sentences. I was good in vocabulary. I also taught myself Latin, I read in an old (1970) dictionary for foreign words at home. I learn dialects quite fast, I understand them, I become familiar with the figures of speech and special vocabulary.

I have lots of fun with it and I found a text which took the words right of my mouth: It has been so relieving just to be understood. I have written so much about it without knowing why. The ability to learn languages rapidly but also the necessity to imite other people. I tend to do it too often, though, to send in the frequency of the counterpart instead in my own one.

Each week I am able to put another piece of the puzzle together, another mystery in childhood is illuminated. I cannot fade out days with anger due to the lack of skills to deal with other people, irrespective of a bunch of total strangers  releasing a flight instinct (save being drunk enough, like during a concert) or people being close to me. So it is not necessarily sufficient to know the cause for some behaviour. To know the reason is not the solution at the same time. It is not easy to outthink your mind. Rational thinking is freezing.

You do it because you have something and it leads… ok, that’s a statement, so what? I try to get rid of cursing about what still is not working, but rather try to distract me. I want clarity. My thoughts are free. My environment is inclined to say „you go completely overboard for the idea of any association of Klinefelter’s syndrome with autism!“ For me, however, it’s a feeling like a childs curiousity during first moon landing. Curious about what happens actually and to make a question time out of it.

My question time grows into a period of three months. Since my first contact with the fundamentals of Klinefelter’s and beyond the known facts, my research shed light into the darkness, revealed the basics of something I did not expect. Despite the fact it confirmed a gut feeling much more has been released lying under the surface for a very long time.

As usual I am rational in-depth, despite acting very touchy-feely to the environment. And I’m asking myself: Why? What are the effects of this lack of testosterone in my body, was does it mean to have an additional X chromosome?`Why is my amygdala smaller than with men having typical 46, XY karyotype? How does this bunch of hormones, genes and brain activity interact?

While I’m reading mainly scientific papers published in the recent couple of years, I’m still at the beginning. Suddently, my interest is as big as with my first special interest influencing my life for about 23 years.

For which reason should I stop this search? I act rationally, I know what I do NOT have. I also suppose many XXY men exhibit atypical autism traits if classified with autism spectrum disorder at all. Less manierisms, less stimming, less routines. However, I do NOT know that! As I contacted other XXY men in the first place, I did not know anything about behavorial issues! Autism was something special known from the unluckily stereotyping film Rain Man. So I did not recognize or payed attention to their behaviour. I was not even able to recognize myself in their biography.

In any case, dealing excessively with my life, my being and my underlying genes is a strong feeling of relief, like a whole rock breaking. Every light-bulb moment encourages my self-conciousness to take the bulls by the horns, stepping forward into the public. What could hurt me know? I know why, I work actively against my weaknesses. I DO something.  What else does someone want to blame me for?

XXY or Klinefelter’s syndrome? a matter of definition

I am conscious of unconciously initiating a debate about paradigm change in the german-speaking Klinefelter’s community (if existing).

Many if not all of us receive Klinefelter’s diagnosis because an additional X chromosome is present. According to this assumptation, both is mutual exchangeable. Somebody with Klinefelter’s syndrome has karyotype XXY and somebody with karyotype XXY has Klinefelter’s syndrome.

The majority of men with Karyotype 47,XXY clearly feels masculine, even possessing wider hips, pronounced gynecomasty and sparse body hair. Even when they fail in athletic sports and are not able to keep up with peers in team sports. They identify as man and benefit from testosterone replacement therapy, respectively, becoming more masculine: Body hair grows, libido increases and also – let’s say – male strength, the courage to compete with peers.

Under the assumption, all men with this special set of chromosomes would identify themselves and want to feel so with respect to their sexuality, XXY could be automatically defined as Klinefelter’s syndrome – as a result of testosterone deficit.

Truth appears to be more complicated: Like among 46, XY men, there are also 47, XXY men who cannot identify with their gender identity.

In our experience, both in research and in clinical prac-
tice, the two terms – KS and XXY – are almost always
used interchangeably. Yet, the study inquiries that we
received highlighted an interesting issue: Should there be
a distinction between XXY and KS? Males diagnosed with
KS will generally have an XXY karyotype, or variation
thereof. However, perhaps not everyone with a XXY
karyotype should be diagnosed with KS. KS defines char-
acteristics that are only unusual if found in a male. Com-
mon symptoms, such as low testosterone and breast
development, are not unexpected features (or symptoms)
if identified in a female.

Therefore, for an individual with an XXY karyotype who does not identify as male, KS may not be a suitable diagnosis.

The authors of the cited article go even another step forward: Argumention could also be valid for XXY men who identify as man but not with masculinity of the social norm, who consider supposed deficits as accepted part of their being. For them, too, diagnosis of Klinefelter’s syndrome may appear inappropiate.

Despite the known positive and possibly life-extending effects of testosterone replacement therapy, it is likely not suited or even damaging for those who accept their gender identity but do not want to become more masculine: Identity has even a higher value than negative health aspects.

Therefore it is important to acknowledge not all XXY men will accept „norm’s masculinity“. On the one hand, the concerned men should not feel *weird* because they do not fit in the traditional gender role. On the other hand, they should not have to perceive themselves as intersexual all the time, as transported by media reports permanently resulting in enormous stress and shame.

Comma or hyphen?

Salman Rushdie wrote about his book title „Osten, Westen“ that the comma is crucial: He is the comma.

I feel similar as a diagnosed 47, XXY Karyotype.

I am not able to put myself in the position of many concerned persons with extra X chromosome since I don’t want children yet. I do not have relationship problems because of this either. A lot of XXY males suffer from testosterone deficit. I just suffer from lack of power during sport activities or reduced gain of muscle strength.

Otherwise, I’ve always been more the thinker than a body man. Many concerned persons suffer from dyslexia while I never was at war with orthography and grammar. I love reading, writing as well as foreign languages. I could write all the day – and I also love to create new words and to write in both staccato and tapeworm sentences.

A lot of entries in respective forums deal with testosterone replacement as main issue, to become *more* male. However, for me it feels right to have this oversensible *feminine* way to think as it led to a pronounced sense of justice. I’m even happy about not belonging to agressive and violent men. I don’t need bell-wether fights to impress somebody.

On the other hand, I tend to communicate much better with autists as with neurotypicals. I recognize myself in so many ways to think and act. Fortunately, my bag is not packed with so many things like rigid rituals, extreme sensitivity to light or skin, monotone eating behavior or pronounced stimming behavior. That picture fits into the studies about XXY men who tend to have a lack of inhibitory skills (oversensitivity) but less pronounced stereotypes.

Many if not a slight majority of XXY men does not fit into the autism spectrum. I’m not sure where I fit in but I discovered more mutualities in Asperger’s biographies and everyday life descriptions than in those of XXY men since their life went the usual way.

I am the comma between the syndromes – or even more: Am I the hypen?

Since I know about possible connections, I am interested in both syndromes. I scan the web for differences and mutualities. For XXY men, there is not a adequate behavior therapy. Maybe they can learn from therapy approaches for Asperger Autists as they share some traits.  The concerned XXY men do not care about the name of their unusual behavior – they seek for appropiate help.