Linksammlung (Querbeet)

Autismus

Autism

Satire

Geschlechteridentität (Gender identity)

47,XXY and Testosterone treatment

Executive dysfunctions

Psychologie allgemein

ADHS (ADHD)

Klinefelter Syndrome

Advertisements

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.

Difference diagnosis and effect on support

I don’t want to spread clichés, so please correct me if I’m wrong. However, if I look at the institutionalized structures, support groups and further advice for people with disabilites in general, also referring to the Disability Act guranteeing the rights of disabled people, there are much better conditions in the United States than in Europe. In Europe, the fundamental rights are presented in the constitution law and in the declaration of human rights. There is also a UN convention concerning people with disabilities which was signed by the Austrian Government in 2008. Anyway, Europe is obliged to treat these people in a similar way like in the USA:

Believe in your strengths and doubt your weaknesses, otherwise they will win.

If you invest in strengths, the weaknesses can be overcome. It’s benefit thinking, not deficit thinking. In Europe, especially in Austria (not to speak from countries in eastern Europe …), people with disabilities are seen as disability instead of benefitting from their strengths. Companies prefer buying themselves free instead of employing a person with a disability. There is too much prejudice and probably thinking in terms of „how much does it cost to modify the working place“ or taking special care of that person. They are seen as ballast and talents and special interests could be easily overlooked.

To my current knowledge, picture of autism in the USA is quite different from UK, Germany or Austria, except for some positive exceptions like companies who employ especially autists to benefit from their computer abilities or general ability to focus on their special interest in a very rigide way; which could be seen also critical as stereotypic picture of autists as computer nerds could be reinforced. Otherwise, numbers are disastrous concerning unemployment. Probably 80 % of Germans within the autistic spectrum are without job, about 40 % for a longer time, in UK only 15 % have a full-time job, some references in Austria even say nearly 100 % are unemployed. What a waste of talent!

As an autist you could have a great knowledge in your special interest, enhanced perception of details which could be used for detecting mistakes and many of them are also visual thinkers or good in expressing themselves in a written form. I can’t list all the advantages people in autism spectrum have – there are better resources than me, e.g. Temple Grandin, Rudy Simone or numberous blogs from autists all over the world who show you their ability. Tony Attwood, e.g., made a list of positive traits and characteristics of autism.

Main problem is however that talent and knowledge could be overwhelming but bad communication skills tend to be present in the foreground and overlap the better skills. And that’s also true for some Klinefelter’s though unemployment rate appears to be not such high as with idiopathic autists. However, irrespective of the underlying mechanisms and resulting diagnosis – if you have difficulties with social communication and interaction, people will likely underestimate your potential.

I really like Christopher Nolans ‚Batman trilogy‘, I could watch it every week, and I especially like the first part.

But it’s not who you are underneath, it’s what you do that defines you.

Though I’m inclined to agree with that statement, it’s appears in another light if you look at in the perspective of someone with impaired social skills. It’s his behaviour surprising, confusing the employer and will likely turn him into rejecting the respective person.  He could have good skills in his area of expertise but he will be unable to sell well in front of colleagues and bosses.

Here is the point where the diagnosis fits in, now with focus on Klinefelter’s syndrome and especially these ones fulfilling many but probably not all autism criteria. The child, adolescent or adult within Klinefelter’s spectrum  could have nearly the same difficulties in social communication and interaction like the child, adolescent or adult diagnosed with autism spectrum condition. However, there is not any handbook or advice for Klinefelter’s children and as long as they don’t let them be diagnosed with autism as well, they will not obtain respective support.

For an adult with Klinefelter’s syndrome revealing the same symptomes like Asperger’s syndrome, it plays a subdominant role whether childhood fits into the clinical picture of Asperger’s. It’s more an academical question if classic autistic traits could be observed. The adult wants to know how to manage current life, in the 40s or 50s. Most of the research deals with children and adolescents, not with adults, unfortunately, and there is little known about the effects of testosterone therapy on adults starting in adulthood, with respect to the behaviour. Most of the testosterone benefits do not affect the diagnose criteria for autism though improving relationship to peers was observed in studies. Bad communication skills could probably endure the therapy and maybe still present after years of testosterone substitution. Moreover, sensory integration disorder is also present with Klinefelter’s and could affect the working environment in a class room or office, too.

So there are two ways to obtain support for men with Klinefelter’s syndrome.

  • Either Klinefelter’s are generally tested for autism (and ADHD though the majority will obtain ADD, if present) and further strategy is to follow the approach for autists …
  • or we need just similar structures like in USA, with detailed descriptions of behavioral and sensory issues which are probably not related to testosterone deficit, and subsequent guidelines how to make things easier for concerned persons in school, at university, on the job and in everydaylife.

As long as we do not have these structures, there will be frustrated some, not all men with Klinefelter’s who suffer from many similar difficulties like people with autism but they just have the „wrong“ name of their diagnosis and will be misunderstood or even ignored.

People with autism and Klinefelter’s syndrome share two of the main criteria for autism: They tend to avoid eye contact and suffer from enhanced sensitivity to sounds, movements or touch, but could also benefit from their enhanced detail perception and ability to focus on their special interest.

Of course, there are differences, e.g. in brain architecture, but as already mentioned, from a current point of view, it only plays an academical role and is not an excluding criteria for autism, as long as it is not proven that testosterone could cure all autistic-like traits in Klinefelter’s spectrum.

Just to sum up a bit:

I strongly recommend to believe in your strengths. It does not make sense to solely focus on your weakness.

Good communication skills are important but should not distract from a person’s talent. For communication, you always need two persons. Use your language as precise as possible.  Don’t be upset if opinions are expressed in a direct and honest way. Smalltalk and wrapping criticism in a smooth way are probably not our best skills.

We need a better understanding of what Klinefelter’s syndrome comprises with respect to sensory and behavioural effects which are not covered by testosterone therapy itself. As a result, we could develop similar structures and guaranteed rights for Klinefelter men, too.

Long way to go but avoiding a long rocky path will continue status quo which is – in my opinion – not satisfying. And aside from Klinefelter’s syndrome, prejudice is also given for ADHD and autism. We are all in the same boat.

Stay tuned and spread the word !

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.