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When is 47,XXY not Klinefelter's Syndrome ?

Posted , 12 users are following.

andy16
andy16

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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  • tom1635
    tom1635 andy16

    Posted

    Klinefelter Syndrome is the term used for a diagnosis.. your karyotype will be 47XXY, I also have 47XXY, I don't look like a stereotypical KS man either.. however I do know alot about it because when I was 15 I drug tested various testosterones for Pharmaceutical companies including T-Gel (I was the first to ever get the licensed version), Sustanon 250, various patches, Restandol capsules etc etc.. but Klinefelters Syndrome is the umbrella name for 47XXY, 47XXXY, 48XXY, 48XXXY, 48XXYY etc etc, go join the Klinefelter Syndrome Association as a member and go learn more about it.
    • Emis_Moderator
      Emis_Moderator tom1635

      Posted

      Hi all,

      I shall read this discussion in depth later and remove the comments that have descended into an argument. Can users please not use the public forum in this way. Each user's posts are their own opinion and opinions should not be "forced" on to other users. If you disagree with another user's post this can be stated politely without taking the discussion off topic and stopping other users from posting. If users wish to carry on a debate such as above you can start a new discussion or use the message facility.

      Regards,

      Alan

      Emis Moderator

    • XXYGuy
      XXYGuy tom1635

      Posted

      Well. I gave you a report to search for that describes what I say. and you say you don't want to read anything I tell you about, so how can I prove anything to you when you won't read it?  

      However; you can also read "Quality of life is reduced in patients with Klinefelter syndrome on androgen replacement therapy"  which says:

      "In conclusion, our results show that patients with

      KS on average have a lower QoL. They report more

      physical, emotional and social problems compared with

      the general population. Our results do not support the

      assumption that these problems may resolve after the

      start of androgen treatment. Possibly, due to their

      problematic verbalization of emotions, KS patients are

      more likely to express their lower sense of well-being as a

      physical problem."

       

    • HJC275
      HJC275 XXYGuy

      Posted

      Hi Everyone

      My wife has fibromyalgia and ME and I have KS, on facebook and other chat site, everyone knows about fibromyalgia and those in fibromyalgia chat groups seem to chat about how each other feels, how they cope with having fibromyalgia and the best things to do to ease pain

      And I thought, know one seems to know about KS and I have never spoke to or chatted on any chat group about how I feel having KS 

      ok I know there are associations out there and you can join them, but you have to pay to joy and well that just making money out of people with an illness, and in my eyes thats not right

      Then I came across this site, chat group a free one, no one here though really chats about how it makes them feel having KS

      its just more about fighting to who is right and who is wrong, well thats the way it seems in my eyes

      Dose anyone know how to delete your account from here, I have tried a couple of times and I am still here

      Thanks

    • XXYGuy
      XXYGuy HJC275

      Posted

      Hi, shall we start another discussion on how it feels to have KS?

      I think the Moderator will prefer that. 

    • XXYGuy
      XXYGuy Emis_Moderator

      Posted

      I have no idea wehat you're talking about.  I had no idea this discussion was removed until now.     
  • XXY
    XXY andy16

    Posted

    Just an update on my situation, I currently do not have a GP, way back in February my GP actually said to me '' We cannot help you, do not make any further appointments'', and that's it, I have not seen a GP since. I signed on with a local IAPT scheme where I was told it is general counseling take it or leave it, so I took it as it has got to be better than nothing where the counselor has told me after nine sessions, I need more specialised help than what they can give, so that's the flagship IAPT stuffed as well. So what am I left with, well given the upset my ex GP caused, and I mean it was bad, I was in a very dark place, friends put me in touch with a LGBT charity called The Intercom Trust, who after a few chat sessions wrote to my ex GP and suggested they refer me to the regional sexual medicine and  gender identity clinic to discover my options, for despite low testosterone but not low enough to medicate, I display a number of problems that would usually cause an XXY to be medicated to include gender dysphoria, so something is amiss and that is where I am now. Oh and the clinic aware of my GP problem has requested that I find a GP for when treatment starts I will need a GP, they cannot continue without.
  • ingrid_22
    ingrid_22 andy16

    Posted

    Hi Andy,

    ​I was just looking around the internet when I came across your questions. First of all I do believe that you can look to see if one of your X chromsomes is silenced in raw data genometyping if you have been genome typed. Even though you have 2 X 's one can be non active. Also just remember all the dna info out there is fairly new and not alot of people have had their dna genome typed... I am sure there are many more ppl with XXY or XYY and so on. Don't worry my dna is weird and what is normal anyways!!!

    Cheers

    • XXYGuy
      XXYGuy ingrid_22

      Posted

      Hello Ingrid,

      X inactivation is a feature of all persons with more than 1 X.  If that wasn't the case the human species wouldn't be here.   What might be the cause of the wide degree of disability in XXY males is the non random nature of that X inactiovation, called Skewed X Inactivation.   

  • john75639
    john75639 andy16

    Posted

    All xxy's are unique. No one matches exactly to another xxy. I am 5 feet 5 inches tall as an US citizen. Some xxy's are tall over 6 feet, but stature varies, as does weight. I have seen slim xxy's and some overweight. 90 percent are heterosexual and the rest gay or transgendered. Some have children, others are sterile. Without hormone treatments, my testosterone level is 37. I get hormone shots because I don't want to get osteopenia or osteoporosis. Some xxy's consider themselves as intersexed, asexual or xxy or klinefelter's. I consider myself as 47 xyx. I was diagnosed at age 29 and now I'm 64. There are many types of xxy's, so you will have to do research on websites. I live in Colorado which increases my hemtocrit, so I only take 200 mg of testosterone otherwise my blood gets thick. Hormone treatment also varies from person to person
  • john75639
    john75639 andy16

    Posted

    If you have normal chromosomes, you may have a mosaic form of klinefelter's. This disorder is when some of your cells might be normal as XY and others may be xxy. These individuals might have children. Or if you have normal chromosomes, you may have a disorder called Kallaman syndrome. Some body features as klinefelter's but not klinefelter's . Or you may have a male phenotype but with xxy chromosomes. In the US, you can be put in one of 8 categories of Klinefelter's but not be a klinefelter's male. Some xxy males don't use the term Klinefelter's, some use intersex, some prefer to be known only as xxy.

    They don't want to be labeled under the doctor Klinefelter 's name. Some prefer the asexual term and others are transgendered. But most doctors classify most men who have hypogonadism as having Klinefelter's syndrome. I hope this helps you

  • XXYGuy
    XXYGuy andy16

    Posted

    The reason the medical porofession wants to call all XXY males Klinefelter males is because they, for the most part, support abortion.  All foetusses with a 'syndrome' can be aborted, it's so much worse for foetusses if they have a syndrome,  much worse than some unfamiliar term like XXY, which takes extra explaining.  So if all XXY's have a syndrome, the medical profession doesn't have to make any distinction between problems caused by hypogonadism, and problems caused by extra genetic material, and problems caused by parents & teachers who don't treat their XXY boys properly, it's all the same to the medical profession.  They just say 'oh that's Klinefelters' syndrome, you can't do anything about it until puberty, so don't bother trying.'

         

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