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What does it feel like to have Klinefelters' syndrome?

Posted , 68 users are following.

XXYGuy
XXYGuy

Another contributor wishes to discuss what it feels like to have Klinefelters' syndrome, so I thought I'd start a discussion on that topic, see what comes of it?

I'd like to be able to choose XXY as a place to put this discussion, then we can chat about what it feels like to be fat, or to have gynaecomastia, or to be sterile, and any other disease associated with being XXY.

6 likes, 399 replies

399 Replies

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  • SunRisen
    SunRisen XXYGuy

    Posted

    Ok I have just been reading an article in a PDF entitled AACE  Guidelines presented as an update in 2002 which is basically an over view of the evaluation and treatment of Hypogonadism and there amongst the multitude of information are these jewels. On page 441 ... When hypogonadism develops before the age of puberty, the manifestations are those of impaired puberty. The article then provides a bullet point list of symptoms small testes, phallus, and prostate, scant pubic hair, disproportionately long limbs (delayed epiphyseal closure), reduced male musculature, Gynecomastia, and Persistently high-pitched voice. It then goes on to list postpubertal symptoms perhaps more typically described as secondary hypogonadism. The problem with published papers is that all too swiftly they become out of date info or they sit there for 30 years until the next study comes along while another problem is that the information need not be universally accepted or even read. 
    • XXYGuy
      XXYGuy SunRisen

      Posted

      I beleive I have that article, certainly I have read it before.  I'm sure it was true, well it would be true if the authors saw XXY boys as they describe?  I beleive they're speculating rather than detailing actual cases.

      There are plenty of examples of boys and girls not entering puberty, who have Kallmann syndrome, and are hypogonadal even in the womb.  

      Anyway whatever, finding an odd rogue report is nothing  really.  Hypogonadism prepuberty is very hard to detect, it would really have to be on the basis of LH & FSH levels in blood, and why would anybody be looking?  Some XXY boys before puberty are taller, but that has nothing to do with hypogonadism, as we see in XXX girls and XYY boys,  who are not hypogonadal, but the Kallmann boys and girls are, and of normal height.  

      If a description of hypogonadism is true for XXY boys before puberty, it must also be true for anybody else who is hypogonadal, and it just simply isn't.  There is no such thing as pubic hair in prepubertal childen, and no such thing as small testes as ALL boys have small testes before puberty.

      I know I had normal onset of puberty, I know most XXY boys have normal onset of puberty too.  I also know that some don't, some are delayed, but not so delayed they're diagnosed XXY because of that delay.

    • SunRisen
      SunRisen XXYGuy

      Posted

      You wrote....Hypogonadism prepuberty is very hard to detect, it would really have to be on the basis of LH & FSH levels in blood, and why would anybody be looking? 

      The difficulty seems to be your interpretation of the signs and symptoms of prepubertal Hypogonadism which would not manifest until after puberty but be indicitive of there having been a prepubertal spurt if the article is taken at face value summarily indicated by the lack of mature development as I understand it. 

    • XXYGuy
      XXYGuy SunRisen

      Posted

      I think the paragraph in question is specualtion, it is only 1 paragraph in the report aftger all.  XY and XX males and females with Kallamnn syndrome are hypogonadal in the womb and in childhood, and they never (without assistance) get to puberty, regardless of age.   From my own perspective I'd not be looking for hypogonadism is a child were very tall, but I would if ther child had no sense of smell.  So my question "why would anybody be looking?"  is valid as   there are no reasons why anyone would be looking except from  very specific indications, like Anosmia, which is also very difficlt to detect in a very young child.
  • SunRisen
    SunRisen XXYGuy

    Posted

    If you type AACE Guidelines-2002 update it will take you directly to the article 
  • SunRisen
    SunRisen XXYGuy

    Posted

    So as previously stated I do not fit the slot...I had pre pubertal development but I also entered puberty I do not have a small penis or a high pitched voice but obviously some people do...and having long limbs need not indicate excessive height with one recorded KS being 5' 6" and another 5' 8" but they had legs longer than their bodies.
    • XXYGuy
      XXYGuy SunRisen

      Posted

      I've been XXY all my life of course, and I've never been tall, I was one of the dshortest in all my classes until high school, then I was about average, and later, after school, I was skinny, no musculature, sparse facial, pubic and body hair, classic KS symptoms there, but not at all tall.  This is why is is true to say "Some XXY babies may go on the develop the symptroms Dr Klinefelter described, but a lot of them won't"  and you and I, and the other fellows you mnention, are examples of those that didn't. 
  • SunRisen
    SunRisen XXYGuy

    Posted

    Dismissing the article as a rogue report without knowing its source is a little unwise as AACE stands for American Association of Clinical Endocrinologists. Consisting of a chairman and 4 committee members the so called AACE Hypogonadism Task Force also consisted of a further 15 reviewers who appear to have been doctors. If you type Endocrine Practice Vol 8 November/December 2002 into a search engine you will get an over view of the document and a pdf download ...cannot find the original linking page...but if I do I'll post its address.
    • XXYGuy
      XXYGuy SunRisen

      Posted

      Picking on one observation I've made suggests to me the others not mentioned have great merit.  I've seen this report mentioned plenty of times, I know I have read it even if I don't have the exact title.  I have plenty of other reports, not a single one mentioning hypogonadism even as a possibility before puberty in XXY boys.  Are all the others wrong, without exception, or have the American endocrinologist speculated beyond logical reason?  

      Increased height is a feature of persons with additional X and Y chromosomes in childhood, which has nothing to do with gondad function.  The ONLY way to determine absolutely hypogonadism in childhood is by testing LH and FSH (gonadtropins) in blood. The  results that can have either elevated of suprerssed production of gonadtropins.  

      In reading reports what must be remembered is, 1:  these results pertain directly to only those in the study.  2: Multiple reports showing the same things are what can be expected in a typical candidtate.  3: the results are not about any individual person.

      Therefore,  in my opinion, if  any report, by any body, arrives at answers not seen before, and not repeated again, it is a rogue report.  If you do not beleive this report you mention is a rogue report, find me others with the same information, detailing hypogonadism in XXY children, before the onset of puberty.  Thank you.

  • SunRisen
    SunRisen XXYGuy

    Posted

    Actually the original description has been seriously modified to exclude those with the worst phenotype so that those who do not fit the description no longer so readily get excluded. But I still feel that there is far too much sterio-typical expectation from doctors who understandably need a template diagnosis yet will protest that some medical conditions cannot be subjected to a hard and fast scientific evaluation process
  • SunRisen
    SunRisen XXYGuy

    Posted

    Why are you getting so defensive? Why are you insisting that if something is true in one example of XXY then it must always be true? What does no sense of smell have to do with hypogonadism anyway? 
    • XXYGuy
      XXYGuy SunRisen

      Posted

      If you look up Kallmann syndrome you'll know what Anosmia has to do with trying to detect hypogonadism in pre pubertal children, that being the only reason I can think of to check for hypogonadism.

      I am not defensive.  I am supporting my comment, "Presumably some XXY boys will go on to develop Klinefelters' syndrome, but a lot of them won't."

  • SunRisen
    SunRisen XXYGuy

    Posted

    However you did issue a challenge and here is are 10 examples all relating to prepubertal hypogonadism.. http://scholar.google.co.uk/scholar?q=prepubertal%2Bhypogonadism&btnG=&hl=en&as_sdt=0%2C5

    of course if the link to the 10 articles does not work then type prepubertal+hypogonadism into a google scholar search engine. While many of the articles only got cited 10-11 times one was cited 94 times.

    • XXYGuy
      XXYGuy SunRisen

      Posted

      All relating to Kallmann syndrome, not XXY boys, excpt the second article, which includes XXY boys, that I know you have not read.  Anybody can look up links, onlyt a few of us can be bothered to read them.  Face it, Klinefelters' syndrome manifests ONLY after puberty has begun.   
  • SunRisen
    SunRisen XXYGuy

    Posted

    http://www.ncbi.nlm.nih.gov/pubmed/15297434 this offers an abstract of the article Testosterone replacement therapy; current trends and future directions. From page 410 under the sub title Clinical features again is a reference to hypogonadism starting before or after puberty. This is not a question the article is pointing out what those defining features represent in two tables. Doctors always have some kind of template diagnosis and the problem with templates is simply this in engineering a template is fantastic but in the human condition templates are often misleading because of 
    • XXYGuy
      XXYGuy SunRisen

      Posted

      Klinefelters' syndrome manifests after the onset of puberty.
    • XXYGuy
      XXYGuy SunRisen

      Posted

      Now that I have more time to reply.

      I don't know why you've given this link, it has nothing to do with the topic from my perspective.  I've been treated to prevent the symptoms of Klinefleters' syndrome since I was 18, so I really don't know first hand what it feels likie to have KS, as I simply do not have it.

      I see that this article makes an attempt too link Depression with hypogonadism, as if they have a direct relationship, that I am not convinced about.  Men and women and children with hypogonadtropic hypogonadism may experience Depression simply by not entering puberty on time, actually thery don't enter puberty at all.  And XXY guys may become Depressed for being criticised too much as children owing to learning difficulties that have nothing to do with LH, FSH, or testosterone. But if testosterone does have a direct assoaiction with Depression, all males ought to have some kind of Depression at least once a day, as their level of testosterone drops off naturally.

      So I say 'the jury is still out' when it comes to associating Depression with hypogonadism.  All people with hypogonadism may well develop eventually Depression, but not simply because of sex hormone level.

      If you (not personally) took a child who had learning issues, thought his difficulties were a deliberate act on his part, and punished him  repeatedly for not learning or remembering, do you think he might develop Depression as a result?  I think psychiatric illness is a common feature in XXY boys, who are failing to learn as they are expected to.  Since most parents only become parents by accident, and never do any formal training to parent, they're not going to have the requisite knowledge to teach their not normal sons properly, and will cause by their incompetence psychiatric diseases.

      There are psychiatric diseases said to have an environmental cause, and mistreatment is a common environmental malady.   

       

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