When is 47,XXY not Klinefelter's Syndrome ?
Posted , 12 users are following.
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)
0 likes, 72 replies
XXYGuy
Posted
That most XXY males do not have the symptoms of disease Dr Klinefelter et al described in 1942 proves XXY and KS are not the same thing, they are just referred to as the same thing by most doctors, and most patients too. However I do not. I refer to myself and other XXY's as XXY, then discuss what medical or psychological or psychiatric conditions I do or do not have.
HJC275
Posted
There are other's which are 45's 46's and 48's I'm guessing they are not Klinefelter's Syndrome
but I would not know 100% as I have not look them up
I'm a 47xxy and I know that I am a Klinefelter's Syndrome suffer and I'm glad that I came across this site
because I have known about myself for 18 years now and I have never spoken to anyone to say how I feel
about being KS, although what do you do cry shout about it or just get on with it the best you can
it sucks I wanted to be a dad
XXYGuy
Posted
I am a dad, my daughter is 16, and my son is 15. I am XXY in my sex chromosomes and I bare no symtoms of disease. I have 44 unique autosomes that go to make up who I am. I do not have Klinefelters' syndrome. I would have Klinefelters' syndrome if I didn't have testosterone therapy, as Klinefelters' syndrome is the symptoms of the disease Seminiferous Tubule Dysgenesis.
I have known I am XXY since I was 17, and I've been treated to prevent the symptoms of disease showing for 34 years. I would never describe myself as the symptoms of disease, or any other XXY male.
There are potentially thousands of sex chromosome aneuploidies out there, and the known ones must number in their hundreds.
HJC275
Posted
Ok I do have a possible son but would not know 100% without DNA testing............but my doctor told me to
get the thought out of my head about having kids has it would never happen, perhaps there is a chance,
I know there is always hope
About being proud of having KS, what a stupid thing to say to some one, and some where along the line I
think maybe you have been miss informed, having KS is a syndrome not a disease
A disease is some thing you catch, some thing that is past onto you diseases caused by viruses
KS you are born with it is part of your make up, it's an extra chromosome
Its just a syndrome, and yes its not very nice but at least you can't die of it like you can with a disease
Don't get me wrong in all of this, I am not here to fight I am just happy I am not alone and there others
here that know where I am coming from in this.
bikerunner
Posted
I am not your 'typical' KS male; I am tall (6ft 4), of a slim build but I have been very athletic since I was about 17, running, karate, swimming, Pilates, cycling etc (not team sports though because my physical co-ordination is not the greatest although karate was good for that in my 20s). I have been a professional worker for 12 years now (teacher) and consider myself clever. I've always been quite emotional and prone to periods of being 'down' but never relied on drugs or alcohol to boost this (I was a soldier so that wouldn't have helped)! I am also a hairy man, although the head hair went a long time ago!
I am now taking T gel and noticed that I am feeling a lot less emotional but no extra hair growing, as can often happen, reportedly. I now think of KS as an annoyance but am still quite sad at the position it puts my wife and I in.
Julian, how are you progressing?
XXYGuy
Posted
Klinefelters' syndrome does not manifest until after the onset of puberty, so some XXY babies will most likely go onto develop the symptoms of disease Klinefelter et al first described in 1942, and most I expect won't. So if you don't have the symptoms of disease described, how do you have Klinefelters' syndrome by being XXY + 44 unique autosomes? Remembering of course that Klinefelter et al never knew about chromosomes, and never studied (of course) genetics, or anything remotely to do with genetics? Genetics was not a branch of medicine before genes were discovered.
The above isn't my brilliant idea, it was first described by an American doctor in 1994, a Dr Robinson. You can read his brilliant idea here:
http://www.nzscs.co.nz/uks005.htm
Which is on a website I pay for myself with my own resources, and seek no assistance from anybody, as I'm a self funding, XXY guy who knows how to make money, and I'm really good at it.
I also do not suffer from any sense of fake modesty. If you're good at something, flout it! That what's I do, I recommend it. My website is about Sex Chromosome Aneuploidy, with professional publications written by, or approved by, doctors. All I do is repeat what they say, like a musician playing chords I have not had an original idea ever. When was the last time an musician invented a new chord?
My children are by donor insemination, hell I'd had my testes removed by the time we started thinking about having a family, neither of my children are genetically related to me, and they know it. That's 1 reason why I'm a really good dad, I don't hide anything. I am truthful with my children. I seriously question all XXY guys who claim to be the father of a child naturally. I would need evidence to believe it. I do have accounts of proven fertility in XXY guys so it can't be taken for granted that ALL XXY guys are infertile, but it can be assumed they will most likely be infertile. Only a sperm test will make it certain, so that's what ALL XXY guys need to do before they declare themselves infertile, they may not be?
Oh you can indeed die of Klinefelters' syndrome, those symptoms can include Heart Disease, and Heart Disease is a killer. The symptoms also include Type 2 Diabetes, and Type 2 Diabetes is a killer too.
So you either control your symptoms of disease or die, take your pick? I know what I choose. But most XXY guys are never diagnosed, and exactly how many go on to develop Klinefelters' syndrome we don't know either. We don't know, and neither do the doctors, know how many XXY guys die early as a direct result of not being diagnosed! It is just assumed that XXY guys lead normal lives, and have normal length of life.
Obtuse:
" annoyingly insensitive or slow to understand."
Really? I understand a great deal more than the average XXY, or indeed average anybody.
XXYGuy
Posted
here that know where I am coming from in this."
Yes I know, you've been told a load of BS from day 1 as BS is easier to say than truth. It's much easier to get you to believe BS as in the past the medical profession has assumed all people with more or less chromosomes than normal will be mentally deficient, and telling you the truth will he too difficult, so they don't bother, they simply assume you're likely to be an idiot.
I've argued with the people who run this site that the information being presented here is all wrong, and they agree in principle, but won't change anything as they'll be different from the crowd, and other site owners might look down on them, they have capitulated to peer pressure.
Have you looked, you can't find XXY as a discussion topic, but there ought to be. XXY has far reaching effects, and KS is limited to physical effects only. The syndrome does not cause educational or psychological or psychiatric problems, but XXY can, and can from childhood when KS has not manifested. It could be that you didn't develop KS until just before you were diagnosed, or it could be that you had KS years before, but you don't know as the medical profession never bothered to check?
I know you've been told KS and XXY are interchangeable, and they're not, that's the BS you've been lead to believe. It's just simply not true. I know of XXY guys who have never had any educational issues at all, and find it offensive that educational issues are associated with being XXY. So it's really weird that they don't have educational issues, but can't learn that educational issues are regularly seen in XXY guys! Just because something is regularly seen does not mean everybody who is XXY will have them, except for what you've been told, KS! That's just not logical.
I'm not typical KS, I never have been. I'm not tall, not over 6 feet. I'm not yet obese, I'm working toward obesity, as many men my age are! I don't have sparse facial and body hair, well not now I don't. When I was first diagnosed I did. If I want to improve my self esteem do I constantly look back to how I was, or see myself as how I am? As I've been taking testosterone for so long and so many changes have taken a effect, how can I possibly describe myself as how I was, surely how I am is of much greater value!
Like most XXY guys in their teen years I was very skinny, as I had insufficient testosterone to gain muscle weight. I had no inclination to exercise either, and had I stayed that way I probably would have developed the symptoms of disease Klinefelter et al described, but it would have taken many years of inactivity. Men with KS get obese because they have insufficient energy, not because they're XXY.
Remember Klinefelter et al described the symptoms found in 9 adult males. And when Jacobs and Strong checked the chromosomes, they only tested 1 man with KS. They did not do testing of many infants from birth. That's where the truth lies, in the longitudinal studies from birth. So the more you read the more you will learn, unless you don't want to? If you want to just repeat the 'same old same old' as if it were gospel, you can. You can do anything you want. So can I.
XXYGuy
Posted
Have you had a biopsy of your testes? For intracytoplasmic sperm injection just 1 sperm is required, and you may have some sperms inside your testes, if your investigations went that far?
http://www.babycentre.co.uk/a4097/fertility-treatment-intracytoplasmic-sperm-injection-icsi
HJC275
Posted
Syndrome or is a Syndrome a Disease
there are so many answers but not the right one for the question
xxy guy, you are one of the lucky one's, you have said you never had any educational problems and have
also fathered two children, what I and I'm sure so many others would give to be like you
All my life I have had educational problems and was diagnosed as dyslexic when I was 29, but these
days I see that as a
positive because of the way my brain works, with a technical outlook
I have slept with a few women in my time and not put a rubber on the end of it, but all the women and no patter of little feet, the only lucky thing that came from that is I never got any STD's
so anyway the point is MR xxy guy, maybe you are not xxy after all, but then on one site i was on, it states
that a xxy person with low sperm count could farther a child
ever feel that you could be going around in circles
HJC275
Posted
Most of what you have said, has been the same for me, times of sadness for no reason, times when I have
felt so low that I wanted to take my life
I also lost my first wife because of KS, she so much wanted children and when we could not have any
she
first started accusing me of having the snip " I wish " but then love turned to hate and because I was so
emotional it was easy to tear bits off me
I am re-married now and my new wife is the best ever
I am also on T gel, every day its crap having to take it every day, but without it, the mood swings are not
pretty, I never had any face hair growth until I started taking T gel 18 years ago and now, oh god do I
have to keep on shaving , my wife likes that rough look so most of the time I can get away with it
XXYGuy
Posted
Quoting myself:
" My children are by donor insemination,"
I suggest you read the rest of what I say more carefully too.
HJC275
Posted
Ok fair enough, I never read all the way through, responses, I don't like reading that much, I find it hard
XXYGuy
Posted
I can't remember the first words of any sentence if they're of a regular length, I only remember short sentences. That's because I have AD/HD Inattentive Type, and have had it all my life and will have it all my life. So to learn anything I have to read it over and over and over and over again. Lots of XXY's are like that, lots of people not XXY are like that.
HJC275
Posted
Know I never read your website, I’m on face-book like loads of people and from time to time, people/friends post on their walls all about invisible illnesses and syndromes KS is never there and I decided to try and find something for KS and in doing so I came across When is 47,XXY not Klinefelter's Syndrome through Google
I then read some of the discussion on here and decided to join and chat to people with the same problems, syndrome as me
Going on AD/HD I have never been tested for it, but I understand where you are coming from with having to read things over and over again
I’ll not go into the story of my life to much as it’s a very long one, after loads of crap in my life I found myself wanting to work in IT, I did a course and at the end of it there was an exam, everyone on the course but me, did the exam on the last day of the course, I took over a year to get the info in my head then went for the exam, by that time though everything had changed, but I still took the exam and lucky enough I still passed and then very luckily I landed a job with IBM
XXYGuy
Posted
There it is again, valuable information, read the whole thing, take as long as you like.