Klinefelter's Syndrome

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Interesting to see this today. I have some characteristics that match descriptions I've read online of Klinefelter's, and thought it might be worthwhile to cough up the $ to get a genetic karyotype test to see if there's anything to it. I just recently got formally diagnosed with a mild degree of Asperger's, but this is an additional possibility that was on my list of things to investigate. I'm already very middle-aged, so I'm not sure what I would do if it turned out that I did have Klinefelter's other than think to myself "Well, I'll be darned!"

I feel I owe you all a bit more detail so here it is:

Some of the things that were really problematic for me when I was younger were things like passivity (in my case I was quite self-effacing which put me at a distinct disadvantage); I also used to shut myself off socially in the classroom from those around me which I remember very well in unstructured classes like in French lessons. There were also problems with self-expression, a short concentration span, speech and language difficulties, issues with memory (I had to write everything in order to learn it), feelings of tiredness and excess fatigue for no real reason, poor muscular development, low self-esteem, depression and poor communication skills.

Of course the real difficulties began to happen when other guys began to grow facial hair and I did not. I was very late to mature and yet despite several times seeing the doctor the signs were missed. It wasn't until a chance encounter at the doctors when I was 28 that it was discovered that my testosterone levels were at rock bottom and much lower than what they should have been. That sparked the need for the genetic tests and that was when I was diagnosed with Klinefelter's Syndrome. I am now receiving testosterone replacement therapy which is very helpful and will help to keep things like osteoporosis at bay which apparently I'm much more susceptible to with Klinefelter's (as bone health is dependent on testosterone).

With 75% of males with Klinefelter's not knowing they have it and with my late diagnosis I would really like to see more people diagnosed with Klinefelter's earlier as I know the difficulties I faced when I was younger and I wouldn't want others to go through those difficulties too. If I'd received the right attention earlier on things would have been much smoother for me and I wouldn't have struggled so much and those looking after me wouldn't have struggled to look after me so much. It isn't nice knowing there is something different about you and not knowing why and being told that it is all imagined which I was told many times. That left me in quite a difficult position because it also meant I wasn't getting the support I most certainly needed. I simply didn't have the drive back when I needed it with such low levels of testosterone and that meant I didn't make the most of the opportunities that came my way. So I missed out big time by not getting the support I needed. So if any of the above symptoms sound familiar then go and get it checked out (or at the very least visit the following links and find out more):
- http://www.ksa-uk.net/
- 75% of males with klinefelter's don't know they have it (PDF leaflet)

Please feel free to comment or ask questions as applicable to this topic. I might not be able to answer them but I may be able to offer you signposting to enable you to seek answers for them.

Thanks

I've heard of KS before - I have a passionate interest in chromosome disorders, so I've read a bunch about it.

Some links about KS and autism:

http://link.springer.com/article/10.1007%2Fs00787-007-0601-8?LI=true
http://www.pediatricsdigest.mobi/content/123/5/e865.full.pdf+html
http://tinyurl.com/avaalwh
http://igitur-archive.library.uu.nl/dissertations/2007-0524-200329/c4.pdf

There does seem to be a link between KS and autism. Which is ironic because Turner Syndrome (single X) is also linked with autism.

Random fact: male calico cats have XXY - cats need two Xs to have the calico coat pattern.

Hi Mike,

same thing here. I recognize myself in many aspects you describe and received the XXY diagnosis late, too. Even after having the diagnosis (which was amidst the studies) I could not imagine any consequences concerning communication and cognitive skills. Shyness, passivity and anxiety could not explain everything in my life so far, even not to gain new friends and to maintain friendship. I also struggled to detect ironic phrases and tend to be naive. I was talking like a 'little professor' and did not interest in peers, especially in peer's activities but I was used to talk with my teachers and professors. I learned driving bicycle with 9 (instead of 3 or 4, which is a common age for it) and I had difficulties catching/controlling balls leaving me as an outsider in team sports.

I think some symptomes appear typical for Klinefelter's but also for Asperger's. It's hard to draw a line between them. I am not even sure if testosterone replacement from earlier ages would have prevented effects like poor motoric skills and communication skills.

As I've been diagnosed with bipolar disorders before receiving the Klinefelter's diagnose and most of the therapy concepts did not work with me (as the underlying deficits were not recognized), it is really important to obtain the correct diagnosis. Maybe Klinefelter's could be treated better when including the the Klinefelter's behavioral into ASD spectrum. This also depends on the origin of the x-chromosome. Paternal x chromosom tends to increase difficulties with social interaction and communication while maternal origin empasizes stereotype/repetitive behaviour. The underlying study, however, deals with very few participitants, like in so many scientific studies with Klinefelter's. It's difficult for me to believe in conclusions drawn from a sample containing less than 50 participants or even far less.

Anyway I found more XXY males in the Internet also having Asperger's, see e.g.

thiliechristine*tumblr*com/post/4231734476/volunteering-for-autism

a case representing my ''positive skills'' very well: photography and writing. Especially the latter one is not typical for Klinefelter's. So far I met more Klinefelter's with legastheny than without. I rather tend to overexpress myself with writing and I also tend to talk too much to strangers and friends not noticing when they are not interested in the topic (special interests e.g.).

To come to an end of this. There are few specialists dealing with autism and a tiny fraction of specialists/therapists has ever heard from Klinefelter's. To obtain good treatment is quite difficult, especially here in Europe.

Pompeji

PS: Interesting lines from Mikes link above: ksa-uk. net/links/53-ksa-links-resources



None of the doctors treating me for Klinefelter in the first place (shortly after the diagnosis in the hospital) told me about this, not even the "humangenetic advice" or another specialist. They only looked at the testosterone levels (which were for a long time within the expected range): everything ok, next control next year. Moreover, few of the andrologists and therapists, respectively, know about this link.

Alin (he used to post on this site as Strapples, but haven't seen in him a while) also has Klinefelter's and autism. In fact, he has Rett Syndrome, which usually kills boys as infants, so it was probably because of the Klinefelter's that he survived.

http://www.alinssite.info/