What does it feel like to have Klinefelters' syndrome?

Hello.....  I didn't say "80% female 20% male."   As far as I'm concerned all XXY guys are 100% male unless they transition, but genetically even when they do transition, they're still 100% male.   Is this a trick question?   

The second request in a week to write what it feels like to be diagnosed with Klinefelters syndrome.  Fasciating.    I'm certain that will have a lot to do with the age of the patient and that persons circumstances. So whatever I say is about me only.  

This is exactly what happened, I have it written down so I can refer to it any time I like.  I was at a job interview, I was 17, and for the very first time a doctar wanted to feel my balls, whilst looking at them. (When I was 12 a doctor touched my balls without looking and that was really upsetting too.)  That was under protest by me, I'd never considered a doctor would a want to feel my balls, stroke my pubic hair, or try to give me an erection, deliberately. The doctor I saw  at 12 casued an erection but I thought that was accidental. So that felt very uncomfortable.

Being naked in front of a total stranger for the first time was weird feeling.  As the years went by after diagnosis I got used to it.  

So inititially I wouldn't let the doctor touch me, I pushed his hand away I was very offened with him just looking at me, my body wasn't especially good looking, and he said "Mr (my surname) if you don't let me examine you, you won't get the job."  To which I thought "blackmail"  I was offended again.

So it was painful, I mean really painful, and I said so, and he said "Don't be so silly, it doesn't hurt at all."   Later I considered that as my balls were so small he was palpating the epididymis as well as the balls, but it was definitely painful!

So I had to stand naked and lay down naked.  And hold my arms out straight whilst standing, naked, this was a definite problem for me. Then after that he let me put all my clothers back on. Phew, that was a relief.  

Then he sat at his desk, wrote a letter, put it in an envelope, and sealed it.  He handed me the sealed letter ans said "Give this to your GP."   I said "I don't have a GP" and he replied with "Well go and get one."   He was pretty abrupt.

So these days when I think about it, this is what he could have done better.  When I first walked in he knew he had an XXY guy in his surgery, or he was pretty sure of it.  So he should have said "I think you might have Klinefelters syndrome"   Then he should have explained what he needed to do for that diagnossis to be made, or at least indicated it.  I'm sure I'd have been much more relaxed if he had.  He just assumed I knew what doctors really do, and I didn't have a clue.

Then instead of sealing that envelope, he should have told me what was in the letter, and asked if I had a GP, and if I didn't explain where I could find one.  I'm sure the appointment would have gone much more smoothly if both of us knew what he was looking for.

So the initial doctor never said a word of explanation, and that was disturbing.  It wasn't like he was examining my eyes or ears close up,  he was examining my genitals, and I was a teenager, and I was clearly very nervous.  I'm not sure if doctors can learn that type of thing, you know not really learning, but remembering what puberty was like for them, and XXY's stalled pubery isn't just a physical trait thing, it's mentality & confidence as well.  

Thank you for taking the time to share your story. It must have been a deeply traumatic experience and I am so sorry the medical system failed you on such an important, life-changing matter.

Did your GP handle this any better? How many genetic details did he provide you with when explaining your diagnosis to you?

I only insist on the matter because I find explaining a genetic disorder particulalry challenging, given the fact things are not really palpable and easy to imagine. 

 

Well now lets see, I think I'm a bit slow.   Somebody does something or says something I don't like and I just sit there thinking, not when they physically hurting me, that I repond to immediately, when I notice.  I have AD/HD Inattentive Type so I don't always notice what others regard as obvious.  

The second doctor I saw, who was my mothers doctor as he was the only one I thought of, said "If you ever have anything to talk about I'm always available"   Actually to go and see him he rang me personally, after I dropped that letter off at the surgery, so all this happened in 1 day.  I didn't open the letter as it was sealed. It wasn't for me.  Like I said I think I'm slow!    ANYBODY else I think would have opened that letter. Well maybe anybody else except another XXY guy?

Yes I think it was a trauma, two doctors crushing my balls in one day, not pleasant.  The second one, Dr Risely, Kopata Medical Centre, Lower Hutt,  New Zealand.  (great long term memeory)    seemed to want to be helpful, but I did not have great communicatgion skills, I wasn't going to talk to him no matter what.  I didn't talk to anyone very much.  What was there to talk about anyway?   Back then all I wanted to do was die. Talking was not top of my agenda.

It might be just me?  Other XXY's might have been different?  They didn't grow up with my parents, they didn't get their extra chromosome form either of them, they don't have my unique collection of X's turned on and off as I do.   Did their mother try to kill them when they were 4 and 8?  XXY boys tend to have challenging behaviours, I'm told.

So did I refuse to talk much as I knew it would get me into trouble?  Or was I just slow to learn to relate?   I was really good at Human Biology, I took it as a topic in school to study.   NZ School Certificate, British SCS, do they still have that?    I think NZ School Cert is close to British O Level?  Anyway I knew a bit more than most about genetics as it was back then.  Dr Risely didn't mention sterility.  It must have slipped his mind.     He did mention the name, "Klinefelters syndrome"   he did mention the extra chromosome.  And I never went back to see him.  I saw his nurses after that and they never had any information to imaprt. They were like steel gin traps when it came to releasing information.

The best thing he could have done was not examine me, but when you're XXY the chance of that happening is zero.   I never saw the first doctor again either and his name was McGreanor, and I know that because his wife was the Geneticist who did my karyotype, which is why I think he was looking.  I was his success story for that year, I think?

You'll just have to dive in at the deep end.   I think you need to consider that  possibly the XXY guy you're talking to isn't really taking in what you're saying, even when he says he is.  I think you need to relate the same information over and over   until he says "OK I got it!"   As I think he's likely to not want to be seen as a bit dumb and say he understands when he doesn't.  I think XXY guys worry about that sort of thing.

Hows that?      

Again, I am terribly sorry to hear about your unfortunate life experiences. I cannot believe you didn't even have your parents' support and understanding and had to go through everything all alone.

On the other hand, you must be a really strong-willed person, as most people would have crumbled under the pressure of dealing with every emotional and social challenge that that extra X chromosome brings.

I want you to know that your story has made me more aware of what a huge role empathy has in the doctor-patient relationship. I've gained crucial insight into the struggles of a real XXY patient, an actual person, not just a short paragraph in the Genetics book. So for that, I will be forever grateful.

Thank you so much for being open to this dialogue. I hope you are in a better place now.

Well, now?   Now I dread going to a new doctor, I know what will happen and if I protest they won't let me join their practice.   My Endocrinologist retired and he knows my feelings on seeing new doctors, so he didn't refer me to a new Endocrinologist.   I suppose eventually the system will catch up with me and my therapy will be stopped if I don't submit to another examination.  I've lost count of the number of examinations I've had.  

The really weird thing there is that XXY's generally don't get diagnosed, which must mean doctors don't generally examine male genitalia.  Or they generally have no idea how big testes in adults and teens are suppoed to be?  Do you have any idea?  So why do they repeatedly need to examine us who are known about?  It just doesn't make any sense to me.

I get a great deal of pleasure telling people about me and me being XXY.  I enjoy reading all the information I can get my hands on, even though most of it does not relate to me.  All my life I believe I've been sterile, yet I have a family.   Just today I saw my daughter, and she's in good spirits.   I don't spend all day long thinking about me, being XXY, being treated for KS, I just live it.  I think I'm like anybody else.  I may be wrong?  

If I can be of service to others I make myself available.  And from time to time I get taken advantage of, like anybody else would, I think.  Oh and I also help get XXY boys found,   simply by pointing out my experiences and showing how they're similar to published information.  So that makes me happy.  Life goes on, doesn't it.

Have a good career, find lots of XXY's, and be happy.  

Hi my 3 year old got diagnosed 3 week ago by his paediatrician well she was absolutely clueless I'm still none the wiser myself really all she could tell me was he won't have his own children. His behaviour is horrible and she said this is nothing to do with his ks bit after reading about it I believe it is.

She should have been able to give me more info about it than she could instead of me sat crying and her knowing nothing now I'm waiting upon a appointment with somebody who can give me details.

I agree and disagree with the paeditrician.    Your boy is XXY he's not old enougnh to develop the symptoms of diseases Klinefelters' syndrome is the symptoms of.   And when I was growing up being absolutely spot on perfect was the goal, so if I had to be that way, doctors can be that way too.  It's only fair.   

One report I know of says 50% of XXY males after the onset of puberty will have some sperm in their ejaculate, so your boy might be fertile, or at least be able to produce offspring with fertility treatments like ICSI, Intracytoplasmic Sperrm Injection.   I'd not write him off just yet.

Many XXY boys have behaviour issues, and learning issues.  It is directly related to being XXY and has absolutely nothing to do with Klinefelters' syndrome.  KS is a form of male hypogonadism and the only therapy is testosterone.  He probably will identify as male, most XXY males do.  However it may be that he will identify as female? Although I've never heard of that in an XXY child before.  It seems to be a feature of a few older XXY men who are diagnosed much later in life.

As most XXY males are never diagnosed it's really hard to say exactly what will happen in the future, as an absolute.  On my website  that you can search for, called NZSCS  dot co dot nz, you'll find an online copy of Understanding Klinefelters syndrome: a guide for XXY males and their families.  I edited it for New Zealand conditions,   but it was written by a fellow called Robert Bock  for the US National Institutes of Health, and I reckon it's a pretty good introduction.  Very easy to read, with lots of detail.

HTH?

Hi thank you for your reply I'm still no wiser to understanding ks or xxy I don't know the difference between them. My main concern is his behaviour I don't like to have to discipline him all the time I want him to be happy which he normally is but don't want him in the future to think I was always getting at him.

To say people say it's quite common their isn't a right lot of info out their and not many people have heard of it.

If you could please put the link up to the site u mentioned that would be great.

Say this to yourself then type what you say  

NZSCS  dot co dot nz

This is a dot .

So it's http://nzscs (dot) co (dot) nz   

Understand now?

If I put the actual address in the post will be blocked and you won't see it.  You have to exercise your brain.  

Re-read my post and keep re-reading it until you get it, I literally can't think of any other way to say it.  It really is quite simple.  

Have you ever heard of "catch them when they're good?"   Have you had any formal training on how to parent?    You know your son doesn't remember everything you say, so he won't do everything you say, you effecitvely didn't say it.   So you have to repeat yourself, over and over, and not lose your temper.  No hitting, slapping, smacking, spanking whatever term you want to use, that won't help it will just make his difficulty worse.     

I have to agree with XXYGuy. I am an XXY person as well and I can relate to what he's saying very well. I think it's fair to say that we have a tendency to forget things not because it's easier or we want to play hard ball with our parents or teachers; there's a problem that we always forget. All throughout school and college and beyond, I forget things. It's very frustrating because we don't want to forget; it is just it is the way it is. Unfortunately it is very frustrating for us too. For me the prime examples were when I was in school, before a spring break of course the teachers would give tons of homework. During spring break my parents would ask me if the teacher gave any homework! I would never remember. Then when we would back to school, right when the kids would have their homework ready, all of a sudden I would remember I had so much homework that I didn't do. It was not only frustrating but also embarrassing. So my parents allocated a notebook so the teacher would have me write down the homework, she would sign before me leaving for the day and my parents would have to sign upon the completion of my homework.

I just had a reunion of kids I went to school with and they reminded me that I always used to have a notebook and a pen in my pocket; I didn't remember this. But my classmates reminded me that I had this notebook and pen in my pocket all along. Because I learned I was XXY when I was 48 years old, I realized that I had found a way to remember things by writing them down in my notebook when I was a kid. I was oblivious that I was born with this genetic condition. I am sure your son will also find ways to cope with his condition.

I also have to say that XXYGuy is a very good man. Two years ago when my wife and I were trying to conceive a baby, we had just learned that I am XXY. I went through a lot of down times; crazy difficult hard times. XXYGuy has been my angel. Although I do not visit this site often but he has been more of a counselor for us with this condition. He has a great deal of information that is beneficial to people like us and to parents who have kids like us. How often have you visited a counselor or a doctor that has the same condition as his/ her patients. I am not implying that XXYGuy is a doctor but in my book he has been more than a doctor for me; HE IS MY HONORARY DOCTOR AND PSYCHOLOGIST. THANK YOU MY FRIEND!

I have to agree with XXYGuy. I am an XXY person as well and I can relate to what he's saying very well. I think it's fair to say that we have a tendency to forget things not because it's easier or we want to play hard ball with our parents or teachers; there's a problem that we always forget. All throughout school and college and beyond, I forget things. It's very frustrating because we don't want to forget; it is just it is the way it is. Unfortunately it is very frustrating for us too. For me the prime examples were when I was in school, before a spring break of course the teachers would give tons of homework. During spring break my parents would ask me if the teacher gave any homework! I would never remember. Then when we would back to school, right when the kids would have their homework ready, all of a sudden I would remember I had so much homework that I didn't do. It was not only frustrating but also embarrassing. So my parents allocated a notebook so the teacher would have me write down the homework, she would sign before me leaving for the day and my parents would have to sign upon the completion of my homework.

I just had a reunion of kids I went to school with and they reminded me that I always used to have a notebook and a pen in my pocket; I didn't remember this. But my classmates reminded me that I had this notebook and pen in my pocket all along. Because I learned I was XXY when I was 48 years old, I realized that I had found a way to remember things by writing them down in my notebook when I was a kid. I was oblivious that I was born with this genetic condition. I am sure your son will also find ways to cope with his condition.

I also have to say that XXYGuy is a very good man. Two years ago when my wife and I were trying to conceive a baby, we had just learned that I am XXY. I went through a lot of down times; crazy difficult hard times. XXYGuy has been my angel. Although I do not visit this site often but he has been more of a counselor for us with this condition. He has a great deal of information that is beneficial to people like us and to parents who have kids like us. How often have you visited a counselor or a doctor that has the same condition as his/ her patients. I am not implying that XXYGuy is a doctor but in my book he has been more than a doctor for me; HE IS MY HONORARY DOCTOR AND PSYCHOLOGIST. THANK YOU MY FRIEND!

Hi XXYGuy,

I meant to write this to Kelly35069. I guess not visiting this site as often as I should, I don't know the ways of doing things. I copied and pasted above so she gets a comment from me as well.

Hope all is well.

Kirk

Well, I'm not used to getting compliments.  Thank you very much Kirk.  That response doesn't seem to match the quality of your compliment.

You're so lucky to have had helpful parents.  My parents and I didn't know I was XXY until I was 17.  They took it upon themselves to tell the enitre family, people I'd not see in years,  and I did not respond favourably.  

When I was school they knew they had a child with no short term memeory, and they did absolutely nothing to be helpful.  Now I can think of ways to help children with poor short term memory, like write it down, as your parents did.  Or ring the school and tell someone else whatever the instruction was,  such as 'don't forget to be home by a particlar time.'   But my parents never thought that far ahead.  

When I was 4.5 I was diagnosed with Petit Mal Epilepsy, this was a misdiagnosis, my parents and the doctors didn't know it.  I was prescribed medication to alleviate the absences so in theory they didn't happen anymore.   Of course they did, they still do today, if I don't have the right medication.   I actually had, and still do have, AD/HD Inattentive Type.   If you look up the symptoms of both you can see why the misdiagnosis was made.  However my parents and my teachers didn't see the improvement they were expecting, so I was fobbed off as  having a 'mental problem'  and people with 'mental problems' just can't be taught.

So I want people to go read about how to teach XXY boys, as even in the XXY community of parents there is resistance to accepting their boys have AD/HD  and if I say  "They could be AD/HD"  there's a huge backlash of well... abuse.... some of these people don't believe AD/HD even  exists, how can their boys possibly have it?    BUT the method of teaching XXY boys in the classroom is EXACTLY the same as teaching AD/HD boys (which or course it would be).

I even went to organisations that help AD/HD children and asked them to consider that maybe some of  their boys were XXY, and again resistence, 'all our children are normal' came a frequent response.  Parents of AD/HD boys don't want to accept their sons might be XXY as much as parents of XXY boys don't want to accept their sons may have AD/HD.  It's like both groups of parents are working their hardest against the best interests of their own children, from my perspective.

So as you say, I'm not a doctor, I'm a patient.  I can recall being told as a child, (so it must have been said lots), "these are the best days of your life"   but what is so great about being yelled at all the time for not remembering something said to me moments before, apparently?  Literally within the blink of an eye something said to me was forgotten, as if it was never said.  My parents and teachers simply decided I was willfully disobedient, and I paid for it in stripes!

Nobody ever caught me when I was good.          

I'll have another go then.

My father was a Diplomat. We lived overseas a fair bit.  One of his colleagues was diagnosed with Parkinsons Disease, I don't know anything about that I just remembered it years later when I was having a discussion with a Doctor on YouTube  about why he referred to XXY newborn boys as having Klinefelters' syndrome?   So I asked him, if a man is born with the genetics that will one day lead to Parkinsons disease, was he born with Parkinsons disease?  

What do you say?

The doctor said "no he was not born with Parkinsons disease"

Klinefelters' syndrome develops sometime after the onset of puberty in males with any degree of additional X genetic material, but they're not born with it.  As your son nears puberty you can consider the therapies he probably will need, but until then you don't need to concern yourself with them as he doesn't have the disease they're there to treat.  

Your big mission at the moment is catching him when he's good.  Encouraging him when he does remember, assisting him to remember and it is not going to be easy.  Break all lessons down to small segments, much smaller than normal childen, and repeat them over and over until he tells you he's got it.  Remember your normal looking child is not normal.  He will do everything he can to please you, he will even lie to please you.  So you have to be vigilent, and consistent, and calm.  You have to be a saint of a parent.  You have a tough job.