What does it feel like to have Klinefelters' syndrome?

You know how Snoopy (Charlie Brown) stands on one foot and rolls over on his back when someone says something flattering?   Well that’s how I feel when someone asks me my opinion.  :D

I would say “be nice to him.”  Children love people being nice to them.  I know for a fact that even if my parents did know I was XXY it wouldn’t have made any difference at all.  I know this as they thought I had a form of epilepsy and that knowledge made no difference at all, so why would the knowledge of me being XXY?

Once I was on a Facebook group for parents of children with severe disabilities, and one woman rejected everything  I suggested she could use to help her cope with her situation,  the thing I thought she needed the most was a break away from the child, or respite care!   But, she wouldn’t do it!  We’re all only human, we all need a break away, I bet if a carer could be found her child would have loved a holiday away from her.   Still, that was never going to happen, as what she really wanted was  someone to grizzle at, not ever hoping of finding a resolution.    

But I’m slow like that, I don’t notice people are getting annoyed with me until they’re REALLY annoyed with me, and it’s too late to do anything about it.   Your XXY son might not have that problem, (but I think it’s commonplace in our population and he probably will).  I know of some XXY guys who get really annoyed when I say there is a connecting between XXY and learning difficulties.  There is, it’s a fact, not just my opinion.  But their responses are so XXY, so typically XXY.  Why get really annoyed over an opinion or a fact that has no effect on them?   

I bet, most of the time, you’ll forget he’s XXY.  You’ll have your relationship with him and what you have will be normal.  Compared to parents with other children it might not be normal, but with him it will be normal.  It will be all you both ever know.  So me forgetting where I put my sox was normal, just as it was normal for my parents to beat me because I couldn’t remember, as if some how  physical pain was going  to improve my poor short term memory!   I can assure you it does not help.  If your son has a poor short term memory, you’ll have to remember for him.  Eventually he’ll tell you when you don’t have to remember for him anymore.  He might even get snotty about it, as he will not remember how helpful you were for him when he couldn’t remember.  :D

Have an exceptional life with your son, you both deserve it.

 

Haha! Thank you for your candid answer. He's the youngest of 5 kids... And I couldn't help but laugh when I read the part about being snotty. My older 3 kids are all on the verge of becoming teenagers. They're awesome... But sometimes have snotty moments, forgetful moments, and even selective memory. So... I'll have lots of practice. 😉

He also has some severe, life-threatening peanut/nut allergies. So, I'm a bit of a helicopter mom with this one... Trying to keep him safe and alive until he has a voice of his own.

I really don't talk about it much at all, and I'm very, very selective with any family members or friends I discuss it with. I don't want to give other people the opportunity to label him... Or whisper about him not being able to biologically father children, or make ignorant comments about gender, sexuality, etc.

Anyhow, I appreciate your response and encouragement! I'm so glad I stumbled upon your post--and even found some other mommies with similar questions in the process!

Thank you very much!

Ahhh, peanut allergy, I heard something about that on.....   "Trust me I'm a Doctor," maybe?    This is a British website, that is a British programme, therefore you must know what I'm talking about.   Anyway, a young girl was 'weaned' off her peanut allergy by  slowly giving her really small amounts of peanuts.  Yeah it'd have to be really small amounts or the first dose would be fatal.  For medical science that would be a disaster of a therapy!  

I had what might be called 'hay fever' when I was in America one time, and never again after that,  it was definitely something in the air!  The hotel was next to an oil refinery, that might have had something to do with it? And before then I was given a drug with sulphur in it, which caused a lot of itching.  Oh and I've always been mildly allergic to bee stings, but hey, who isn't?   I saw a programme about using bee stings to treat  arthritis, so if I ever get arthritis I won't be taking that therapy on, I'd be so bloated I'd never get my shirt or pants on.

Other than them I know nothing about allergies.  I don’t think it’s anything related to being XXY?  I’ve never actually looked into it, so I might be wrong?  

I’m almost 60 by the way,  I can’t believe I’ve lived for so long!   Those big things that seemed so impossible to counter are just un-thought of these days.   I have 2 children, well they’re teenagers now,  one legally an adult, going to university!   I’m absolutely rapt about that.  It doesn’t matter to me what she does for a career, so long as she finished high school.  My daughter has passed my level of academic achievement, that makes me a success.  

I was somewhat upset when I discovered ALL my extended family KNEW I was XXY without asking me about it.  My parents made sure they all knew!    Back then there was ‘Genetic Counseling’  for the parents, nothing for the ‘afflicted!’  Back then everybody with additional chromosomes were mentally retarded, what ‘counseling’ do they need? Back then I described myself as having Klinefelter’s syndrome, so I’d tell people that’s what I had and they’d go look it up in the library, as I did too. Then I’d see them again and they’d say “You’re a liar, you can’t possibly have Klinefelter’s syndrome, you’re not mentally retarded.”   After those initial statements I stopped telling people anything.  There was no other information than library books.  Imagine that, nothing to read but what made it into public knowledge?  

I also recall asking my doctor “Where are all these people?   If XXY is so damn, common, which it is, where are all of them?  There must be between 2000 - 4000 males in my country who are XXY alone.  Then there’s all the other karyotypes associated with KS, where are they all?  How can something  so common have so few people known about?”

So….. back then this KS thing was just another bit to add to the disaster I saw my life as.  There was no connection between educational issues and KS/XXY.  No connection between social issues and KS/XXY.  It wasn’t until 1994 that I found another person who was XXY, having been diagnosed in 1976. So if you can’t count as I can’t count, that’s 18 years of nothing!  You people now are just soooo lucky!       So, the future should be brighter.  

 

I agree-- we ARE lucky! There is so much more information we can access! And I knew BEFORE he was born... Only because I checked a box and paid an extra $20 for the gender test! (Even though we could already tell he was a boy at my 10-11 week ultrasound that I had prior to the blood test!) Best $20 ever...

Knowledge is power.

I think amniocentisis is more than 99% accurate to determine genetic sex.     I suppose there could be some cells from the mother in the amniotic fluid?  Imagine how confused you'd be if you were an XXY fertile female, and the amniocentisis came back XXY foir babies sex, but when he was born he was really XY and the cells tested were yours?   There are such people as XXY fertile females, I'm not making this up.  So maybe you should have your son karyotyped, just to be sure?         

That would definitely be an interesting twist!  I actually did not have an amnioentisis... there is a prenatal blood test these days. It's much less intrusive since it's just a blood draw from the mother.  Then they work their magic to separate the fetal cells from the mother's cells.  Pretty amazing stuff.  But... there is room for error... which does make me wonder a bit. 

I appreciate your responses.  You seem to be the "go=to-guy" for xxy questions in this forum!  Thanks for taking the time to help! 

I had the same genetics blood test while I was 14 weeks pregnant due to age factor. He had bloodwork at 2 weeks to confirm.

Ohh it's true, there is  fetal genetic material in the mothers blood.  Wow that's just so amazing.  I've never been preganant, why would I know these things?     So I just search Mr Google for it and here it is:

"The recent discovery of the presence of fetal genetic material in maternal blood has offered new approaches to non-invasive prenatal diagnosis"

And I got that from the prenatal genetics center.  

I'm XXY I think I was very badly treated as  a child.  I think I should have been diagnosed much earlier and that knowledge should have made a big difference to my life.  As that's never going to happen for me, all I can do is try to make sure everybody else gets the best help they can get, and the best way to achieve that is to find information and make it available.  So I do that.  That's one of my hobbies.  

I've asked his pediatrician about it several times... but I think it's out of his realm of experience. I should be more persistent. 👍🏻

Dear Mom5:

I am 74 years old and have had KS or I should say I have known about it since I was 13 years old! That was 1955, just 13 years after it got a name. From the few words you use to describe your son, that was the description that was applied to me. However, as I began puberty, my breasts began to hurt and I was taken to an Endo at Henry Ford Hospital in Detroit, Michigan, USA. A buccal smear was done and that was the only test besides blood tests that confirmed I had KS. (they swab the inside of your mouth and do tests on the DNA they get) My parents were told the condition was very rare but that I would always have to have Testosterone replacement therapy since my testes would never properly mature and I would always be sterile and have small genitalia. I (HOWEVER), was not told that the therapy was lifelong nor at my age did I fully comprehend the importance maintaining a steady regimen of therapy. At the time much was unknown about treatment as little or no research was being conducted on the problem and that remains true to this day! There is a mountain of disinformation about the condition even as I read this entire thread. One item is IQ, in High School mine was 157 and I went to a very good school. Granted, although smart, I was a lazy learner and only applied myself if the subject interested me. Loved History, English and Art. Hated and failed Math. I did not have the muscle mass, nor the genital "proportions" I would have preferred and no amount of exercising produced much change my entire life. The pain I had in my breasts was from them starting to grow, the Doctors thought I should wait until I was 18 before starting any treatment so that I could attain my full height and weight. I gained a little weight but was always on the skinny side and never grew an inch past 6'0" that I was when diagnosed.

I was an only child but did play well with close neighborhood kids, but in school was bullied a lot, mainly because I was utterly useless at any sport! I was also small compared to my age group peers. I was also painfully shy and a bit of a loner.

Later, in High school, I met a girl in lowest grade and we dated all through HS and graduated in 1960. We are friends to this day but live 1000 miles apart. I was not only shy but extremely embarrassed at my small endowment and although I proposed to her, I felt she had to know there would be no children unless adopted or by a surrogate. I also told her all about my KS anomally. Finally, at 18, I had plastic surgery to remove the excess breast tissue, about a cup on each side, and have felt better about at least my upper body image.

 We went to separate colleges and kind of grew apart after 2 years

but reconnected in 1969 and set a date of 8/31/69 for a wedding. On 6/13/69 I was seriously injured in an auto accident and the wedding was postponed and just never got reset. To this day neither of us has ever married.

Overall, I have few if any regrets and lived a pretty good life, no, I have no extended family nor one I have sired, and I won't donate organs for fear of somehow passing KS to others, I occasionally get sad wondering what would have been had I not had KS, but remember the good times and my incredible loving family who when informed of my plight rallied to the cause and showed me I was loved in many ways. My main wish is that research be actively pursued for this condition to improve and hopely reduce the incidence of KS, also, I am adamantly opposed to abortion of XXY babies, I've met a very nice group of similar XXY men on other threads and they have all deserved the right to life!

Good luck to you and your little gift from God!

Larry

I'm at PubMed right now and I just did a search for Klinefelters syndrome, and I found over 4000 articles, the most recent being published in January 2017, that's this month. There were 98 articles published about KS in 2016.  Just because you people don't read that which is produced doesn't mean it's not produced or that KS is not studied.  Just because research isn't about topics you understand, or in language you can easily read, does not mean  no reserarch is being done. Oh, and the original name for Klinefelters syndrome was Seminiferous Tubule Dysgenesis.

I'm not sure what my parents would have done if they had the control over my therapy, and it may have been that my doctor was waiting until it was out of their hands before he started?  Certainly there was a great deal of argument in our house as to how skinny I was, and how it was my fault because I wasn't hungry.  I think he was waiting for me to say I wanted it?  But even back then it was accepted by the medical profession that the patient has to be the one who makes the decision, as that person is more likely to stick to the regime.  Parents ought to know forcing teenage boys is an bad idea.

 

XXYGuy:

My parents were told 8 years before my birth that my Mom would never get pregnant, so when the DOCTOR was wrong and I showed up, they went crazy about me and would have/and did anything for me. Not all genetically challenged kids have understanding parents and I'm being kind when I say it like that.

As for KS and/or 47XXY, I read about it for years, I joined threads and groups, bottom line for me is: can't change it, have to live with it and do the best I can with what I got.

My original point was to Mom5 about what she might expect for her kid.

At 74, I'm not going to get too fussed about brass balls and new miracle "cures!"

Hello Larry,

When I first discovered there WERE other XXY's out there, my first idea was to check out how much they were like me.  And they weren't.   Most children weren't raised by people who believe inflicting physical pain is the way to teach children.  So how each of us are raised, thrown up, pushed up, or brought up, determines how well we succeed, or not.

As most parents do not train for parenthood prior to babies arriving, most must take into their families what their parents taught them, by example. So what can a parent expect of their XXY son?   I say that will depend on how they treat him, as you've so eloquently described.   I wonder, how would an XXY man raise and XXY son?   Would he be a successful parent in the sons eyes?

    

I never considered the hospital bit myself. It was explaining why I had to have time off work, and why I couldn't do heavy lifting  afterwards that got to me.  

I hope you're really happy with what you get.  I wasn't for my first surgery, but the second I'm rapt with.     

Hi Guy, looking down I'm liking what I see 😊

I hear ya on the telling people on the work front etc, I told them it was for sists lol

Uninformed I said I would need a week off, surgeon today told me they recommend minimum of six weeks off!! Yikes, I only get basic pay which is a hassle too - oh the time to be a public servant lol

I think 6 weeks is a fair assessment too.  Take standing up slowly, and try not to laugh or cough.  

It's fair to say that on my two trips to the loo, I've struggled - by feck am I feeling it 😰

Maybe we can start a new thread "What does it feel like to have artificial testicles?"     I know of two people who can answer.   

I had one person tell me he was up and about the next day after surgery, as if it were like having a tooth pulled.   I think it's a bit more detailed than that.     

Hi, don't really think I can compare my operation to having a tooth pulled!!

I had my small testicles removed - could that be the extraction??!

Then they put in the prothesis,

which by how I'm feeling post op must take a fair bit of shoving & poking

around - then they are stitched in!

Once the pain subsides I'm to yank & pull them down twice a day,

because they want to float away & get out of my scrotum lol

I'd say the pain was like being punched in the balls every hour, if I dared move a muscle.  That's a good reason to not go anywhere.   After my first surgery I was desperate for a drink of water, and the nurse said 'drink it slowly'  and I didn't of course, and within moments of swallowing it it all came back!  Even the ice had not melted!   Then I was wheeled everywhere, even outside for a smoke!  They served me beer to drink, because beer is a diuretic, and they wanted to be certain I could still pee.  The prostheses themselves were so small though, it seemed like a whole lot of pain for nothing.  I was expecting the big balls guys are supposed to have, I ended up with two pair of tiny balls.  They just weren't good enough.  

No beer for me I'm afraid, just lots of pain relief & anti inflamatory's!

I got myself in & out of bed, albeit a bit crab like with the vocal expressions you'd expect!!

Got discharged @6.20 from being there from 7.45am, was supposed to get out earlier but they couldn't let me as the pain was still very obvious lol

I don't think this operation has been in vein, very happy with my new big balls & they're in there on their own - just the two of them 😍

Looking up my medical record I see it was 30/11/1981 that I had my "plastic fantastic" balls fitted.  So they've lasted 35 years, 35 wonderful years.    Remember I was karyotyped in 1976, I consider that a long wait to get  to feel good about myself.  It wasn't until 1993 or thereabouts that I got a doctor to remove my natual balls. You're lucky to get it all over and done with in one surgery.  Getting natural balls removed is just as painful as getting artificial balls inserted.    

Looking up my medical record, I found the opening paragraph of  my autobiography.  This could be considered "controversial?"  

"Klinefelter's syndrome is the symptoms of a disease in the testicles of males with some degree of additional X genetic material.

If a man has some degree of that additional X genetic material in his blood, he can have none in his testicles. Such a man will not have those symptoms of disease as he won't have the disease to begin with! Generally speaking though, XXY men are said to have Klinefelter's syndrome, regardless of the symptoms of disease they may or may not have.

XXY pre pubertal boys are also said to have Klinefelter's syndrome, and they clearly have NO symptoms of Seminiferous Tubule Dysgenesis, the disease Klinefelter's syndrome is the symptoms of, in teenagers and adults with some degree of that additional X genetic material.

Basically an entire additional X is not required, merely a repeat sequence on their one and only X, a regular XY man has, will do. If you really don't believe me, go and ask your doctor!

People seem to like to have a syndrome to blame for everything, whereas I blame poor parenting, poor medical care, and poor knowledge of doctors, patients and parents alike, they are all to blame collectively for their own ignorance, as I am too.

So this is MY version of MY story, and if you don't like it, you can always write your own." 

I feel a little confused in fairness, I don't understand the talk of

Karyotype - I was just told in a pretty panicked way that I had

Klinefelters syndrome!

That literally from that moment on I had to decide what form of

hormone replacement to get & that I would be on it for pretty much

the rest of my life!

Looking back I had a poor time in school, little attention, poor memory,

very little concentration- to which I have attributed KFS, am I wrong to place

the blame there??

My wife wasn't 100% for me getting my operation, she felt that I should

be dealing with my emotional side more, but ironically I can't because it takes

concentration - nearly funny, but if course it's not.

So, hopefully my operation can help me feel better about myself & I

can take it from here...

Wel you talk of poor concentrtatrion, but does that improve when you get therapy for low testosterone which KS is the symptoms of?  Back in 1942 Dr Harry Fitch Klinefelter published a report about 9 men with hypogonadism, and that  information becane known as Klinefelters' syndrome.  The 9 men  concerned  were attending a hypogonadism clinic run by Dr Klinefelters' boss, Dr Albright.  So many of the symptoms of hypogonadism can readily be found in XY males too.  It must be that way or those 9 men would not have been attending that hypogonadism clinic.  So of particular interest of these 9 men was their lack of sperm, their small firm testes, and their elevated LH & FSH.  During biopsy of their testes they were found to be diseased. These are unique features of hypgonadal males.

Years later, in 1959, Jacobs & Strong from Canada discovered one man diagnosed with KS had an additional X chromosome. However an entire additional X is not required for  KS to develop, merely one repeat sequence of X DNA on the only X an XY man has will do.  Also, since all these men were adult, we simply do not know how many children born XXY will go on to develop the syndrome Dr Klinefelter described.  XXY is very common, between 1:500 and 1:1000 live male births, discovered from numerous world wide cytogentic testing of infants at birth.  Of those thousands of infants  at birth none had small firm testes, breast development, increased linear growth,  elevated gonadotropins, and obviously at that age they don't produce sperm.   So infants and the prenatally diagnosed don't have KS.  That other things were discovered about XXY infants and prepubertal boys like delays in development does not mean they are associated with low testosterone, but KS is associated with low testosterone.  So KS and XXY are not the same thing.  Like KS and AD/HD are not the same thing.  And KS and Scoliosis are not the same thing, yet XXY's can have  AD/HD and Scoliosis.  

As for your health.  You feeling good about yourself is the first thing that can be achieved.   If simply making your body look like any other mans body improves your self image and esteem why not do it?  You feeling good about yourself  is a postive thing.  It doesn't matter if nobody else can see the changes, you can, and that's all that matters.      

Ur research is superb if still a little baffling 😂

My quarterly nimbido jab I guess just regulates me, I don't ever see any improved levels- I don't be a sex machine after getting it!

But I suppose it has me producing hair on my body (loosing it on my head though!!) and does other bodily functions.

I take a beta blocker daily to suppress my anxiety over trivial things like flicking off switches, not having too many lights on - heating on in rooms that aren't being used!

I always thought they were traits from my upbringing , ya know big family one wage - turn the water heater off 😱

So I'm regulated to run on smooth, without the testosterone & propanol I'd be a wreck!!

I'm costing the nhs a fortune probably as we get everything for free over the counter, paid my subs via my national insurance contributions.

Right, so for each of your medical issues you have a therapy for them, just one therapy doesn't fix them all. So why would just one condition cause them all?

Im not at home right now. I'll go into more detail when I get back to my desktop. 😁

Nebido is undecanoate, the same ester as is used in Andriol Testocaps, and cannot be detected in a regular  blood test for testosterone.  More than 1 XXY guy on either have complained they have no effect  as they don't increase ther level of testosterone in the body, and doctpors don't know that eigther, so they increase the dose  in an attempt to force detectable Testosterone up, which always fails.  If undecanoate had a powerful anabolic/androgenic  effect it'd be ideal for sports drug cheats, as it happens though it has a very weak anabolic/androgenic effect, and are better suited to older patients  who need a maintenance level only.  If you want massive hair growth and a more sexual ability go for Androderm patches, or Depot-Testosterone injections, or  Sustanon injections (if they're available?)

Each 1 mL of SUSTANON 250 contains testosterone propionate, testosterone phenylpropionate, testosterone isocaproate, and testosterone decanoate.

Depot-Testosterone contains cypionate ester.   

So if you've not got the sex life  you want, or the physical development changes you want, change your testosterone ester.   

Thank you for those substitutes.

I will be asking my consultant on my

next appointment!!

Or my gp, as I was requesting viagra & she took bloods to check

my levels & for diabetics testing!!

Then when I had the pre assessment,

I had bloods taken to test my testosterone levels......and was told

that all was as it should be!!

That now does make me wonder after what you've just told me 😕

So KS is all about low testosterone, but XXY is about a lot of other things as well.  Funny that KS is easily treated simply by  increasing testosterone, with the right ester,  on a regular basis, but that won't change psychologiocal problems, if they exist, psychiactric problems, if they exist, learning poroblems, if they exist, or developmental delay in children, why then call everything KS when KS hasn't even manifestedf?  

It's just  plain laziness by the medical profession. They can't be bothered either learning or teaching.  

Where I am statistics are not kept on XXY abortions, only mental retardation abortions.  So all XXY's aborted MUST be said to be mentally retartded, whreas in fact no XXY's are mentally retarded, and XXXY's and XXYY's only mildly mentally retarded.  And of course they're all said to have KS, because foetuses with a syndrome are so much more worse off than simply having an aneuploidy!