Neueste wissenschaftliche Erkenntnisse über 47,XXY und Klinefelter-Syndrom (2015)

Vor kurzem ist ein neuer wissenschaftlicher Artikel aus Dänemark erschienen, und zwar von Skakkebaek et al. (2015). Er trägt den Titel

Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developments

Die Absicht der Autoren war, vom Hörensagen und kleinen Studien wegzugehen und stattdessen die neuesten Artikel mit groß angelegten Studien zusammenzufassen. Daher gibt es kaum Erwähnungen von Genderidentität, Reizfilterschwäche und anderen Themen, zu denen es bisher kaum Studien gibt. Die Autoren sind Teil einer großen Klinik mit mehr als 300 Betroffenen und haben im Laufe der vergangenen Jahre beträchtliches klinisches Wissen angesammelt. Entsprechend konnten sie große klinische Studien mit Klinefelter-Betroffenen durchführen.

Zusammenfassung

Blau markiert eigene Anmerkungen

Verbaler Ausdruck, Verhalten und psychische Begleitdiagnosen

Die Mehrheit der XXY-Menschen hat Defizite bei den verbalen Fähigkeiten, entsprechend sind die IQ-Werte auch leicht unterdurchschnittlich. Am häufigsten sind eine verzögerte Sprachentwicklung im Kindesalter, generelle Lernbehinderungen beim Lesen und Buchstabieren, flüssigem Sprechen, bei Satzbau, Wortfindung, Verständnis und Entschlüsselung mündlicher Informationen sowie eine verzögerte Verarbeitung des Gesagten. Ebenso sind die Exekutivfunktionen betroffen (Aufmerksamkeit, Pläne machen, Anpassungsfähigkeit der Impulskontrolle (response inhibition flexibility).

Im Gegensatz dazu gibt es keine Beeinträchtigung im räumlichen und visuellen Sehen sowie des Leistungs-IQ (performance IQ). Studien des amerikanischen Kinderpsychiaters Jay Giedd zeigen sogar, dass das visuelle und räumliche Denken der XXY eine Stärke ist. Viele XXY haben außerdem ein gutes Bildergedächtnis.

XXY-Menschen weisen ein charakteristisches Persönlichkeitsprofil auf, das aus höherer emotionaler Instabilität (Neurotizismus) und geringerer Extrovertiertheit, Offenheit gegenüber Erfahrungen und Pflichtbewusstsein besteht. Einzelbeobachtungen von XXY-Menschen bestätigen das – Ängstlichkeit, erhöhe emotionale Erregbarkeit, emotionale Schwierigkeiten, Schüchternheit, ruhiges, passives, verschlossenes Verhalten und Schwierigkeiten im Umgang mit Veränderungen treten gehäuft auf.

Bei XXY werden generell gehäuft Depressionen diagnostiziert ( 70 % bei XXY vs. 35 % bei der Normalbevölkerung), Autismus (11-27 % vs. 2-3 % bei Buben und Männern) sowie ADHS (63 % vs. 5 %), ebenso Angsterkrankungen und Schizophrenie. XXY leiden häufiger unter psychischem Stress und höherer emotionaler Instabilität, was zu Depressionen und Angsterkrankungen beiträgt.

Unterschiede in den Gehirnregionen

  • Das Gesamtgehirnvolumen sowie die der grauen und weißen Materie sind deutlich kleiner.
  • Ebenfalls kleiner sind die des Schläfenlappens, Hippocampus und der Amygdala.
  • Außer einer Studie zeigen alle keine Korrelation zwischen Gehirnvolumen und kognitiver Leistung. Bedeutender scheinen daher kleinräumigere Gehirnunterschiede.
  • XXY-Menschen zeigen eine verringerte Aktivität in den Gehirnregionen, die mit der Verarbeitung von Gesichtsausdruck (untere Schläfenregionen) und des limbischen Systems (Amygdala, Insula) zusammenhängen.

Inwiefern die Herkunft des X-Chromosoms von Mutter oder Vater, die Inaktivierung des zweiten X-Chromosoms und die CAG-Repeat-Länge des Androgen-Rezeptors eine Rolle spielen, ist noch ungeklärt.

Bildung, Lebensstandard, Sterblichkeit und Kriminalität

Zahlreiche Studien deuten darauf hin, dass Verhaltensauffälligkeiten, Lernbehinderungen, niedrige Bildungsabschlüsse und Kriminalität vorhanden sind. Ebenso führen viele aber auch ein normales Leben und der Einfluss der Klinefelter-Syndroms verringert sich mit fortschreitendem Alter. Das soziale Umfeld und frühzeitiges Eingreifen sind sehr wichtig. In Ländern und Regionen mit wenig erfahrenen Spezialisten ist der therapeutische Nutzen möglicherweise weniger zufriedenstellend, und im zunehmenden Alter können sich depressive Verstimmungen und Ängste eher verschlimmern.

XXY-Menschen sind deutlich seltener in einer Beziehung, gehen später in eine solche und werden seltener und später Vater. Immerhin 25 % der in Dänemark registrierten XXY-Männer sind Vater geworden, vermutlich großteils aufgrund von Spendersamen.

Niedrige Bildungsabschlüsse führen zu geringerem Einkommen während der gesamten Lebenszeit, viele scheiden vorzeitig aus dem Arbeitsleben aus (43,5 versus 60,3 Jahre). Die Sterblichkeit ist fast doppelt so hoch, wenngleich teilweise durch Zusammenleben mit dem Partner und Bildungsabschluss beeinflusst (ohne diese weniger auffällig). Die Kriminalität war generell unauffälliger, wenn man den sozialen und wirtschaftlichen Hintergrund berücksichtigt hat.

Nur 25 % der XXY werden diagnostiziert, die Mehrheit erst im Erwachsenenalter.

Daraus resultieren zahlreiche Probleme:

1. Alle derzeitigen XXY-Studien unterliegen möglicherweise einem Selektionsdruck und das derzeitige Wissen umfasst nicht die nichtdiagnostizierten Fälle.

2. 90 % der XXY bleiben bis zum 15. Lebensalter unentdeckt; damit wird ein wichtiges Fenster verpasst, wo man Symptome korrigieren oder abschwächen kann.

3. Das derzeitige Diagnoseverfahren sollte geändert werden, und ein neues eingeführt werden, z.B. XXY durch den Guthrie-Test bei Neugeborenen zu diagnostizieren.

Eine frühzeitige Diagnose kann dazu beitragen, die kognitiven Funktionen, Lernen, verbale Fähigkeiten und Verhalten zu verbessern, vorausgesetzt, die frühzeitige Testosteronergänzungstherapie ist effizient und neuropsychologische Intervention vor der Pubertät effektiv.

Ebenso kann die körperliche Gesundheit verbessert werden, da eine erhöhte Gefahr für Typ-2-Diabetes, metabolisches Syndrom und Osteoporose bestehen.

Schlussfolgerung:

Der neurokognitive Phänotyp des Klinefelter-Syndroms ist klar abnormal und die Notwendigkeit psychologischer und kognitiver Behandlung ist in vielen Fällen offensichtlich. Abnormal mag aus klinischer Sicht richtig sein, aus Sicht eines XXY würde ich trotz aller Probleme VERSCHIEDEN sagen.

***

Weitere (eigene) Anmerkungen:

1. In der Genetik und Verhaltenswissenschaft konzentriert man sich normalerweise auf Defizitdenken bei genetischen Anomalien, dennoch wäre es für uns Betroffene hilfreich, wenn man auch Stärken und positive Eigenschaften hervorheben würde.

2. Die große Mehrheit dieser Studien verwendet den Begriff „Männer oder Buben mit Klinefelter-Syndrom“, womit stets eine Minderheit an XXY-Menschen vernachlässigt wird, die sich nicht als Männer identifiziert. Entweder weil sie intersexuell geboren wurden, oder als Transgender, die als Heranwachsender oder Erwachsener später als Frau durchgehen wollen. Andere identifizieren sich zwar als Mann, aber lehnen die Maskulinisierung durch die Testosterontherapie dennoch ab. Ein paar XXY haben außerdem das Androgen-Insensitivitäts-Syndrom (CAIS) und Testosterontherapie ist für sie keine geeignete Therapie. In der XXY-Community wird heftig darüber gestritten, ob ein frühzeitiges Eingreifen durch Testosterontherapie für alle XXY-Kinder einen Nutzen darstellt, da Transgender oder Personen, die nicht maskulinisiert werden wollen, mitunter nicht dafür geeignet sind oder stattdessen sogar eine Östrogentherapie benötigen. In diesen Fällen scheint der Begriff Klinefelter-Syndrom (der sich auf Hypogonadismus = Testosterondefizit bezieht) nicht angemessen.

Auf meine Nachfrage haben die Autoren geantwortet, dass sie bisher ein paar XXY-Menschen trafen, die schwul sind und sehr wenige als intersex und transgender identifizieren. Dennoch zeigt ihre Forschung keine Hinweise darauf, dass dies häufiger bei XXY als unter Männern allgemein vorkommt. In ihrer Klinik betreuen sie auch Transgender und CAIS-Menschen und sind daher im Umgang mit dieser Patientengruppe vertraut.

Sie raten zur Testosteronergänzung nicht als Allheilmittel, sondern zu einer maßgeschneiderten Therapie für den Einzelnen. Manche erhalten Spritzen, andere Gelanwendung auf die Haut. Sie raten außerdem jedem dazu, beide Formen zu benutzen, um zu entscheiden, was das beste für den einzelnen Patienten ist.

3. Die Reizfilterschwäche wird bisher nur stiefmütterlich in der Forschung behandelt. Es gibt darüber bisher nur eine Studie, die bestätigt, dass Reizfilterschwäche bei XXY gehäuft auftritt.

Van Rijn et al, Psychophysiological Markers of Vulnerability to Psychopathology in Men with an Extra X Chromosome (XXY), PLoS ONE, 6(5): 2011

Bei AXYS gibt es dazu einen Handout über sensory processing disorder sowie zahlreiche Berichte über motorische Schwierigkeiten, die ebenfalls bekräftigen, dass die Reizverarbeitung bei XXY anders funktioniert. Umfragen in der XXY-Community zeigen außerdem, dass sich die Reizsensitivität nicht nur auf Geräusche beschränkt, sondern alle Sinne umfasst, ebenso Sehen (Bewegungen), Geruch/Geschmack und Berührungen. Viele XXY sind außerdem emotional sehr sensibel bis hochsensibel („6. Sinn“).

Verbale Defizite, Sensibilität und Motorik („Sensomotorik“) zählen zu den wichtigsten Merkmale des autistischen Spektrums. Mitunter handelt es sich bei XXY um einen möglichen spezifischen Subtyp der breiten „Autismus-Landschaft“, der eher dem weiblichen Autismus ähnelt:

Furthermore, when analyzing results of the SRS, girls were found to have more difficulty with comprehending social cues, such as understanding the tones or facial expressions of others, understanding jokes or idioms and how to engage in a two-way conversation. Boys were found to have deficits in those domains as well as in the realm of repetitive and self-stimulatory behaviors, such as hand flapping, body rocking or scripted talk. (Quelle)

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Brain, behavior and life of XXY people: a new study (2015)

The entire title of the paper is „Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developments“ by Skakkebaek et al. (2015)

I will summarize the most important findings of the paper and will add some points I missed to be discussed.

Behavior, psychiatric conditions and brain differences:

Verbal abilities are most severely affected, IQ scores are slightly lower than average.

The majority suffers from …

  • delayed early language development
  • general learning disabilities in reading and spelling
  • impairments with production of syntax, phonemic processing, word retrieval, comprehension, encoding verbal information and decreased processing speed, verbal fluency
  • executive dysfunctions related to attention, response inhibition flexibility and planning

In contrast, visiospatial function and performance IQ seem to be unaffected. (1)

There is a charateristic personality profile of XXY people, displaying a higher level of neuroticism (emotional instability) and lower levels of extraversion, openness to experience and conscientiousness.

These data are confirmed by anecdotal descriptions revealing

  • anxiety
  • increased emotional arousal
  • serious emotional difficulties
  • being unassertive
  • quiet
  • passive with withdrawn behaviour
  • having difficulties in approaching new events

Psychiatric conditions associated with XXY

  • Depression (35 % in general population, 70 % in XXY)
  • Anxiety
  • Schizophrenia
  • Autism (prevalence of 1 % in the general population, 11-27 % in XXY)
  • Attention-deficit/hyperactivity syndrome (5 % in general, 63 % in XXY)

XXY is often associated with increased level of psychological distress. Higher levels of emotional instability contribute to increased risk of depression and anxiety.

Brain differences

  • Global brain volume, total brain volume, total gray and white matter volumes were found to be significantly smaller in XXY.
  • Volumes of temporal lobe, hippocampus and amygdala were also smaller.
  • All studies except one didn’t find any correlation between cognitive performance scores and brain volumes.

It is assumed that microchanges of brain structures are more important.

Van Rijn examined the brain activity during social judgements of faces and found that XXY people had decreased activity in brain regions related to face processing (inferior temporal regions) and to the limbic system (amygdala, insula). Two other studies found that decreased language activation and/or decreased language lateralization in the posterior temporal language regions were present.

There is still uncertainty about the exact mechanisms of parental origin of the extra X chromsoome, X-chromosome inactivation and androgen recepter CAG repeat length.

Education, living, mortality and criminality

Several studies suggest that behavioral problems, learning disorders, poor educational outcome and criminal conduct could be seen.

It is also emphasized that many led normal lives and the impact of syndromal effects subsided with advancing age. (2)

XXY men  …

  • have significantly fewer partnerships
  • enter later into such partnerships
  • achieve fewer fatherhoods and for those who had luck they occur later

However, at least 25 % of all Danish Klinefelter Syndrome were registered as fathers, probably mostly due to donor semen donation.

Data also show that …

  • educational level is low leading to a lower income throughout their lifetime and that many retire early (43,5 vs. 60,3 years)
  • mortality is almost doubled, partly influenced by cohabitation and educational status (without them, less prominent)
  • criminality is enhanced for sexual abuse, arson, burglary and ‚other offenses‘ but decreased for traffic crimes (3)

If the social and economic background is taken into account, the risk is generally reduced.

XXY are relatively seldom diagnosed…. There are long delays and frequent-false negatives. Only about 25 % are diagnosed, and the majority has to wait until adulthood.

Several problems follow:

1. all current XXY studies may have selection bias and the present knowledge may not cover the undiagnosed cases.

2. 90 % of XXY remain undiagnosed until after 15 years of age, missing an important window of opportunity for correcting or alleviating the symptoms

3. we should change our current diagnostic strategy and introduce a new one, diagnosing XXY on blood from neonatal heel prick test (Guthrie test).

Early diagnosis would improve

  • cognitive functions, learning, verbal abilities and behavior, if it turns out that early testosterone supplementation is efficient, and that neuropsychological intervention before puberty is effective.(4)
  • the unhealthy body composition, with increased risk of type 2 diabetes and metabolic syndrome seen in adulthood, as well as bone structure.

Future:

Studies are currently missing focusing on proper treatment or intervention to better the phenotype.

neurocognitive deficits, linked to dyslexia and other learning-related problems, may well lead to poor socioal and economic outcome.

A holistic approach is needed.

Conclusion:

The neurocognitive phenotype of Klinefelter syndrome is clearly abnormal (5) and the need for psychological and cognitive treatment in many cases is evident.

*

Remarks on statements:

(1) „visiospatial function“ seems to be unaffected.  Studies by Jay Giedd show that visual and spatial thinking of XXY people are actually a strength of their thinking architecture. So, visiospatial function isn’t only normal but better pronounced. A lot of XXY people have a good visual memory.

(2) The social environment and intervention is very important. In countries and regions with poor density of experienced specialists, therapeutic outcome will be probably less satisfying, and increasing age could strengthen depressive mood and anxiety.

(3) The enhanced risk to commit crimes of sexual abuse [and arson] could probably be related to inappropriate testosterone supplement therapy. Overdosing testosterone might enhance emotional instability and overemphasize masculine behavior of males. It would be interesting to know whether the participants were already taking testosterone supplements and whether on a daily basis (self-medication) or in larger intervals (injections).

(4) It is important to emphasize that testosterone supplement is neither a one-cure-for-everything therapy nor necessarily suited for all children and adolescents. See additional remarks.

(5) The neurocognitive phenotype of Klinefelter syndrome is clearly DIFFERENT.

Additional remarks:

1. Though I know that science in genetics and behavior usually concentrates on deficit thinking in genetic anomalies, it would be helpful for us affected persons to highlight strengths and positive outcome. Anecdotal descriptions reveal enhanced sense of creativity, sensitivity, social justice, honesty, enhanced detail perception, good visual memory/long-term memory, good with animals.

2. In the vast majority of these studies and papers, the term „men or boys with Klinefelter syndrome“ is used, neglecting a minority of XXY people who do not identify as men, for different reasons… Either there are born intersex, or born as transgender preferring to transition into female later as a teenager or adult. Some identify as male but don’t feel well with masculinization through testosterone supplement therapy, either. A few XXY are also reported to have androgen insensitivity syndrome and testosterone therapy will probably not work for them.

One of the most difficult and heavily discussed topics in the XXY community is whether early intervention with testosterone therapy is a benefit for all XXY children, as transgender or persons who don’t want to be masculinized may not be suited to receive additional testosterone or even require estrogen therapy instead.  In these cases, the term Klinefelter’s syndrome referring to hypogonadism (testosterone deficit) doesn not seem to be appropriate.

I hope we – as XXY community and individuals – are able to convince the scientific community to put more focus on gender identity in XXY before recommending one-size-fit-all-cures for young XXY.

3. I missed some lines about sensory processing disorder. There is only one study about that:

Van Rijn et al, Psychophysiological Markers of Vulnerability to Psychopathology in Men with an Extra X Chromosome (XXY), PLoS ONE, 6(5): 2011

confirming sensory gating disorder in XXY (in other words, XXY often have difficulties to filter out background noise/distraction)

The existence of a handout about sensory processing disorder on AXYS as well as several reports about motoric difficulties suggest that sensory processing and integration disorder is likely to be common in XXY.

Anecdotal evidence is furthermore given about enhanced sensitivity to sensory stimuli like noise, light, motions, smell/taste and touch suggesting a crucial commonality with autism spectrum conditions. One should probably think of XXY as possible specific subtype of the large autism landscape.

Human

There are different terms for being XXY: Klinefelter’s syndrome, Intersex, Disorder of Sexual Development (DSD), just ’normal‘ males with an additional X.

In fact, society and scientists always want to create disorders out of everything which is different from the average. Even within the XXY groups, there are heavy debates about the meaning and applicability of intersex. Very few XXY are real intersex since the majority has the typical male sex features but hormones are processed differently in contrast to XY males. Thus intersex will be probably inaccurate as umbrella term for all XXY. Is it really necessary to find a one-size-fits-all-umbrella term? Klinefelter’s syndrome is also misleading for many XXY, as not all symptoms of Klinefelter’s syndrome are present, and testosterone deficit will be inaccurate for those who identify as female or at least non-male.

No matter what chromosome variation we have, we develop in a certain way biologically and physically. We start playing gender roles basing upon our cultures and family role models. We start feeling whether those roles and our bodies feel right about this and to whom we are attracted to. Typically we don’t think about gender, sex and number of chromosomes when we fall in love.  Definitions and nomenclature maybe useful or not but they tend to put us in neat boxes. That is what scientists, institutions, politicians, religious groups and activists want, put everyone into neat little boxes to suit their needs and agenda. We are not defined by the names others pin on us. We are just who we are and should be able to choose our own definitions, if we even need them. 

So whether it’s XXY, Klinefelter, Disorder of Sexual Development, Intersex or (cause for) Autism, it’s just a name that somebody else wants to apply to me, somebody else who is mostly unable to put himself in my shoes, who can’t see I’m  disabled by the societal way of thinking. I’m different, not disabled or disordered. It’s society who is unwilling to accept that the binary gender concept is outdated. It’s science who still thinks everything different from societal norm is a disorder. It’s even some XXY groups who think all XXY are just normal males or men who need testosterone to develop proper masculine features to better fit in.

Being XXY is less troublesome than society’s attitude towards it.

Social exclusion: no, thanks!

The doctor says: Don’t tell it your employer, you will loose your job!
The humangenetic counselors say to parents: Don’t tell it anyone, your child could be stigmatized as intersexual.
The german Klinefelter association says: Don’t tell it anyone, you could be stigmatized as intersexual.

So, why should you not talk about it? Right, because there is a lot of prejudice. Prejudice like …

  • among physicians … when you mention Klinefelter’s syndrome and they answer: Aren’t these the people with thick necks who are mentally retarded?“ Or when a gynecologist said to a young mother: „Abort the child, our society prefers healthy childs.
  • among 99 % of the general population who got never in touch with Klinefelter’s, at the most in biology in school where infertility and lack of testosterone are the main topic. I assume similar experiences during medical school when rare conditions are hardly mentioned. Noteworthy to say that Klinefelter’s is solely to be seen as rare due to the large number of undiagnosed men. If 70 oder 80 % of the XXY populuation was diagnosed, research interest and lobbyism would be greater.
  • As I went to the genetic counselor, they did not tell me anything about psychological effects of Klinefelter’s syndrome. The german Klinefelter association rejects statements going beyond shyness, passiveness and sensibility (which are addressed to the lack of testosterone) and subsequently say it has nothing to to with KS.
  • The austrian support-group also refuses a connection of Klinefelter with enhanced sensitivity to sensory stimuli while detailed talks are given about this topic by AXYS, the american association for X and Y chromosome disorders.

Nobody is able to explain so far how kids with hardly measureable hormone values between mini-puberty and later puberty can show a lack of testosterone. Even if there is a lack of testosterone before birth or with neonates, the hormone unbalance is responsible for essential influence on the brain development in this state of a young life. It may even modify specific brain regions that they resemble the brains of ADHD-brains – according to studies –  as well as from other conditions. Given a prenatale brain development, additional testosterone can’t reverse it just so simple, maybe in some parts of the brain but not in all of them.

My personal opinion is we need to destigmatize XXY and Klinefelter’s syndrome step by step:

Step 1: Everyone with XXY should be invited to an open discussion, even those who do not fit into the scheme of a Klinefelter prototype, like those who are diagnosed psychiatrically or define themsevels as intersex. Open exchange is the precondition not be excluded even among XXY which is a double penalty when you feel as a social outcast in everydaylife. 

Step 2: Physicians, specialists and support group heads have to admit that the second X chromosome may also play a role as the lack of testosterone is caused by the second X.  Open discussion about causes should be possible, at best in exchange with other organisations, e.g. AXYS or Klinefelter Netherlands which possess much more information about it.

Step 3: It has also to be admitted that depressions with XXY men are not only the result of infertility and lack of testosterone but may also be associated with feeling the otherness.

Step 4: Elucidating intersexuality. There are different definitions of intersexuality – not every intersex is a hybrid/hermaphrodite. If prevalence for being intersex among XXY was not actually enhanced compared with the total population, there would be not a reason to refuse the participitation at studies like „dsd life study“. Even if the study turns out many XXY were intersex, it does not mean they should be excluded from discussions about XXY.

Step 5: Clarifying conditions with different (sensory) perception (to call it neutrally and not only pathologically), including autism, ADD/ADHD and schizophrenia. The identity of these conditions often bears creative people having strengths and weaknesses like anyone else. Keywords like trending diagnosis and vaccination damage are unserious and imply it is a disease, not different perception. [though I’d like to point out that severe forms of these conditions may seriously impair one’s daily life] Weaknesses, health impairments can be treated, therapied or one can just try to live with it but strengths must be discovered and encouraged, they do not need a cure. They belong to one’s identity, here: to chromosome variation XXY.

Step 6: Disclosing might be helpful when the condition causes difficulties to communicate and interact. If you are not impaired, you may not see a reason to talk about it. If you feel enhanced mental stress and if you’re struggling with your social environment, however, you should feel accepted and not rejected in local support groups and associations. You should be able to to talk about any topic without being censored and you should ask questions without being slapped with „That has nothing to do with KS“

The self-proclaimed guards of the truth, however, are not open to findings in non-german language. Not all of these findings can be discarded with the argument, the pharmaceutical companies manipulate all studies in the USA. It is already sufficient to look at the raw data instead of conclusions. In addition to that, I mostly use references originating from other countries like Netherlands, Denmark or Sweden. With respect to the inflation of psychiatric diagnoses in the USA (I’ll write a separate blog entry to that topic), an ADHD or autism diagnosis should not be necessarily stated if not all criteria are fulfilled. However, the present symptomes could be treated anyway – only in serious cases with drugs – when therapy strategies with ADHD or autism are considered.

Examples:

1. The child suffers from sensory overloads. XXY children often need more time to process verbal information due to impaired cognitive abilities and distraction by sensory stimuli. Short-term memory (working memory) may play a role, too. Approach: Give enough time, don’t press the child, practice emotional awareness, don’t tell verbal information when too much sensory information is present (e.g. when the television or radio is running in the background)

2. The child has difficulties to manage tasks in an appropiate time. Approach: Use „if-then-lists“ instead of „to-do-lists“. If I tidy up my room, I may play with the children. If I do my homework, a friend may visit us.

Such targeted therapy appreaches might work even without a diagnosis, but current state is that you need an additional diagnosis to Klinefelter’s syndrome because ….

  1. Klinefelter’s syndrome, as it is defined by physicians and in support groups, does not cover all observed behaviorial traits.
  2. the social environment does not know how to deal with your „Coming Out“ of Klinefelter’s syndrome, or they assume testosterone substitution settles the matter and it’s only your problem and one does not have to change his behavior (e.g. clear instructions without the need to read between the lines, better written than verbal information, consider sensory overload)
  3. only an additional diagnose is able to give otherness a name

Main problem is, see step 5, that additional psychiatric diagnoses are burdened with lots of prejudice. Now I know quite a few diagnosed people and I’m far away to think in stereotypes about them. Yet, you can’t expect this from the majority in your everydaylife but you can push them into the right direction, by good references and balanced articles, and unmasking aged information. It is also important to emphasize the worst case must not happen. Many bloggers in the blogroll (see the right column next to the article) explain how ADHD and autism look like, much better than Wikipedia or a textbook.

At the end, the concerned person is the best contact because he knows what a diagnosis means for himself. In any case, you should consider the individuality of each person.

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.