When is 47,XXY not Klinefelter's Syndrome ?

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Last summer I discovered at age 45 I had an condition called Klinefelter's Syndrome of which I requested the karyotype test based on questions I needed answering for my own peace of mind, such as mainly; infertility, low libido, erectile dysfunction and an underdeveloped physique, also the persistent anxiety, depression and some gender questions which have pursued me all my life, where I actually feel out on the fringe and not particularly male despite being one. There was also a worrying chest lump which thankfully turned out to be an infection. I have also been diagnosed with Asperger's Syndrome, but I am not at all like the majority of aspies.

Anyway on confirmation of my suspicions that was a massive weight off my mind, all the questions had an answer so it seemed, but now they don't as my endocrine results do not reveal hypogonadism where the endocrinologist actually said ; My results do not present the usual picture for Klinefelter's Syndrome, yet, I am 47, XXY, which is called Klinefelter's Syndrome, yet I don't have Klinefelter's Syndrome.

Asking my GP to explain, she had no idea and even said she knows nothing about XXY and neither the GP before her and so I am left with some rather distressing conditions that I am not confident I am going to get any help with, because I don't fit '' the usual picture for Klinefelter's Syndrome of which medical care is available '', so can someone please explain what is going on, because really this is not doing my mental health much good at all and I really would like to start living at some point.

( I have also quested of the various interweb fora concerned with the condition and no one can shine any light on what is going on, an XXY without hypogonadism is unheard of, where I have actually been called a fraud and that does not help either)

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  • Posted

    Hello, I'll be glad to attempt to answer your question. My name is Graeme, and I am treated for Klinefelter's syndrome, and I have been since 1977.

    47XXY is not KS in the womb.

    47XXY is not KS in childhood before puberty.

    47XXY is not KS in teens and adults if they have sufficient testosterone to not cause their LH and FSH and GnRH to rise. These three are hormones produced in the brain that are responsible for the growth of the testes (balls) and the development of sperm and the production of testosterone.

    I know of 1 report of an XXY man living in Israel who has normally sized and functioning testes. He is fertile. The report refer to him as having KS, but he does not have KS.

    Klinefelter's syndrome is the symptoms of a disease, not a disease in itself. Yes 47XXY is called Klinefelter's syndrome and it is wrong to call that karyotype by that name. It is at best an assumption that all XXY males will develop KS.

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    • Posted

      So my guy has been diagnosed as KS with the 47xxy. He is taking testerone injections and I can tell a differance in facial hair from the start til now. Ny question is how can his libido be increased? For the past year he has no desire for intimate encounters even with the testerone injections
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    • Posted

      Hello Amber,  men who have no hormone issues at all, and no chromosomal issues either can have bouts of depression, which can lead to impotence....  I suspect the problem here, as it's been going on for so long, and as there is obvious sign of androgen effect, that there is more to this matter than just hormone level.  Have the two of you been to see a psychiatrist, or psychologist, or sex therapist, together? 

      When I was finally taking the right amount of testosterone  having sex was not a problem at all, finding a partner was though.  Only when testosterone was very low was desire affected. 

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    • Posted

      Well he is 38 years old and according to the dr. His testosterone levels was on the level of a 9 year old. When he went back to the dr this last time even with the shots his level went down so they upped his dose. I now see the difference in facial hair but I think he is kinda depressed since he has found out his diagnosis
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    • Posted

      I'd say, "His doctor is an idiot"  cheesygrin  Or you misheard him?   ALL XXY guys start puberty and ALL boys in puberty have elevated testosterone, with the increased testicular size, as expected.  Virtually ALL teen and adult XXY guys when they're first diagnosed have low normal testosterone.   Pre pubertal XXY boys have normal testosterone, almost always.  Your parners' lack of interst in sex might be hormone related, but it's doesn't look that way because of the other androgenic effects you've described.  So I think there needs to be other investigations.
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  • Posted

    I know who you are Graeme I have found your blog and your you tube channel and I do agree with much of what you say as it is so far common with XXY's I have come into contact with, they have to clue up on their own situation as our primary health care advisors know little to nothing at best, something of which I do believe the ksa-uk is trying to address in this country at least and not before time as I suspect the supposed 75% undiagnosed in this country are people like me that don't have Klinefelter Syndrome despite being XXY.

    Yes, I don't have the physique that is all over the internet, I don't have gynocomastia nor do I have wide hips and narrow shoulders or female pattern fat and hair deposits, so, it is easy to see how I and no doubt many others have gone and continue to go unnoticed.

    But despite not having the typical KS physique which might alert more clued doctors to distressing male conditions there is the usual other stuff which is certainly not just small potatoes, there is far more to it and stuff which causes me to be constantly questioning my existence because the feeling is, I don't fit in. This is a feeling that has been getting worse as I age and GP's are just not getting it and anti depressants do work in that they cause other problems that take my mind off the original condition, that being, quit anti D's the problem I took them for in the first place hasn't gone away, the anti D's just masked the problem for a while.

    Physique; tall (6ft), 75kg, underdeveloped, long arms, no musculature, no fat, sparse body hair, infertile, ( yeah got that result 22 years ago).

    Currently I am not on any therapy, I don't really qualify through not having KS, although one doctor wants to experiment, just try me on a months supply to see what it does.

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  • Posted

    Hi Andy, my doctor would describe you as having KS I'm pretty sure. I'm not fat, I've never been fat. I'm not tall, or very tall anyway. I had to wait over a year suffering from intermittent impotence, tiredness, just a general malaise before my therapy was started. Because I didn't know anything I didn't question this process.

    So your doctors want you to have classic KS before they'll treat you, it looks like that. In my way of thinking as you're XXY you fit in, end of story. Not all XXY's need hormone therapy, but they may well need other therapy? That additional X buggers up our lives, in my opinion.

    Testosterone is not the only help we may need, as a population. On Facebook there are XXY's treated for KS who never had any educational difficulty, and resent all information that says we as a population do. I think they're burying their heads in the sand personally.

    Just because I don't have an issue is no reason for me to assume everybody doesn't have that issue, or a substantive number don't.

    I have been offered anti-depressants, but considering the possible side effects I determined not to start them, I decided, 'better the devil I know' than a new one. If I really do have a depressed personality then so be it, it's been that way all my life.

    Just your physique and weight suggests to me you do have KS, I think you should seek a second opinion. In order to have classic KS you (or I) have to lead a pretty activity free life. Even the regular XY males have a testosterone level that spans, normally between 3 and 10, that's a huge scale of normal!

    Masking problems - let me think about that. Testosterone masks the problem of testicular failure. But if testosterone did nothing, then it wouldn't mask anything. When I was 17 I was absolutely petrified of developing that fat women body shape I saw in the library books. I do not want to end up looking like that

    but that is classic KS, the whole point of the therapy is to avoid that appearance. So it makes no sense to me to find people early, or before they look like that, only to force them to look like that before they qualify for therapy. That's just counter productive!

    So, yeah, second opinion I think you need.

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  • Posted

    Second opinion in the UK means more of the same as they all passed the same exams to become doctors, right? But that is not exactly true as my experience is with the young right out of med school, the female, the Asian, they are the best option in my opinion, because primarily they treat me as an equal where a young Asian just out of med school actually said if all his patients engaged him on his level his job would be a whole lot easier and patients would perhaps be better treated. Yeah I have a diagnosis of Aspergers syndrome, not that I am much it is just what came apparent at the time, but whatever I am I can transpose what
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  • Posted

    I understand the first question, the rest is a bit confusing.

    So you think all doctors are equal because they all passed the same exams?

    Doctors specialise, my Endocrinologist for instance specialises in Menopause. I had to teach him to be interested in Klinefelter's syndrome.

    Find an Endocrinologist who specialises in male sex issues, sex differentiation, is what I think you need. I think you'd be happier if, even if you got no new therapy, if you talked to a doctor who specialises in your type of condition.

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  • Posted

    Finding this non-typical KS physique discussion interesting as I do not consider myself to be atypical. I am 6ft 4 (my family are genetically tall) and weigh around 13stone to 13.5 stone. I have pretty normal musculature as I'm a runner and bike rider but generally fit with a probably typical swimmers's build (wide shoulders). I am rather hairy and of above average intelligence so find it difficult to liken myself to any of the reported KS characteristics.

    I'm aware of the mosaic variety...

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  • Posted

    I'm not 'typical' either. I never have been. I wasn't discovered earlier because of medical profession incompetence, that spanned the globe! Most of the supposed 'doctors' who SHOULD have diagnosed me were British! I spent most of my early teen years in London. Male sexual health means nothing to most doctors. XXY has got to be the easiest medical condition to diagnose in the world, all any doctor need do is examine testes of boys in puberty. Dead simple, but they can't be bothered.

    So like this site they can't be bothered mentioning they're only dealing with the most extreme cases of KS when they describe the symptoms. Like all the other XXY males on the planet we don't matter, we're not 'their' typical. We don't fit 'their' accepted major symptoms, we are atypical. They vast majority of us are 'atypical' as the vast majority of us are never diagnosed. Never ever diagnosed. Because the medical profession's too EFFing LAZY!

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  • Posted

    In 2001according to my then GP "it is pointless for you to have a referral because you do not have a head with a smaller circumference and your arm span is not greater that your height" luckily he gave in eventually. Presumably the source material that he was using identified these as predominant characteristics?

    Let me put you guys straight there was a classical phenotype and in some circles it probably still exists. One article you might be interested in reading or better still directing your GP to read can be found here (assuming that it is possible to publish links on this page) http://bluwiki.com/images/4/41/KS2008.pdf

    This is the PDF variation of New concepts in Klinefelter syndrome. Paduch et al 2008 though sadly there are still articles being published in 2013 that spout all that other nonsense ie: small penis etc which undoubtedly does apply to some people but not to everyone.

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  • Posted

    Examining matured teenage boys testes will not specifically indicate KS in any event as any smallness could indicate a hormonal disorder not necessarily related to KS. Whereas atrophied testicles are indicative of either illness or injury.

    GP's are just referring agents each with their own specialties and regardless of how professionally friendly and knowledgeable they appear to be each patient is just another item on the conveyor belt that passes through their daily routines.

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  • Posted

    It's not up to me to say what can be detected or not from the examination of teenage boys testes, I am not a doctor. I do know that NOT examining teenage boys testes will almost certainly guarantee they will not be diagnosed with any malformation disorders, size issues, or cancer.
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  • Posted

    @XXY Sure so where is the funding going to come from? You need to appreciate that even if there was a screening campaign for the most common disorders then by default KS would be excluded along with other conditions that are not life threatening. A ratio effecting 1 in 10 might even be discounted as a non critical figure so 1 in 500 or so stands no chance.

    Doctors tend to evaluate conditions by referring to a template diagnosis and I did not match this template in 1980 or indeed in 2001 but persistence by my 3rd wife enabled me to get a referral by my then GP who blatantly refused to refer me because I did not match the supposed template. So reading your insistence that you are XXY but not a KS sufferer makes me sigh with frustration because like doctors you have become blinded by rhetoric you patently cannot see the wood for the trees.

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