What does it feel like to have Klinefelters' syndrome?

Whilst you're there, naked,  you could lift your penis and see if you can see your balls, and if you can, squeeze them, or one of them anyway.  If it gives a little and springs back, that sounds normal.  If they're rock solid with no give, you've got a problem.  

You could masturbate (if you have access to a powerful enough microscope) save the ejaculate and look at it under that microscope, don't expect to see actual sperms, just expect to see movement in the sample, if you don't, you've got a  problem, either technique or no sperm?  

You could see if your pubic hair is that classic diamond shape a post pubertal male has, or if you're too young or not so well developed you might only have the triangular shape females have, owing to them much less testosterone.

HTH.    

Or, you could find the male reproduction organs app and compare what you see to yourself?  Without skin and other structures, all normal balls are oblong.          

Anyway XXY is not heredity, it's a random event where either parent can pass on an additional X, or where errors in cell division after fertilisation results in an addition X.  If you're female you can't develop KS even if you do have an additional X, no matter which parent provided it.  KS only affects genetic males.         

Sperm needs testosterone to form and grow in,  yet the testes of XXY males after the onset of puberty atrophy, (shrink).  So they physically can't grow any bigger even though the cells in them that make testosterone are undamaged.  It's the surrounding structures, the seminiferous tubules, that get damaged. They are incapable of allowing whatever testosterone is there from passing through them.  I liken their condition to Firth concrete blocks, the air holes represent the leydig (pronounced lie-dig) cells, and the concrete between them, the seminiferous tubules. So you can get an idea of how well testosterone permeates the tubules.

So this doesn't happen overnight, initially at the start of puberty some sperm production does take place and for some XXY's, maybe 50%, some sperm production remains throughout their lives.  It's just nowhere near enough to  be considered fertile.

Anyway, in the brain there's a hormone that tells the testes to make testosterone it's called Leutenizing Hormone (LH) and if insufficient testosterone is detected, more LH  is produced, so typically an XXY man will have elevated LH, as the testes can't make more testosterone, and LH continues to rise.  If any man, XXY, XY or whatever, takes exogenous  (by injection, patch, gel, oral preparation)  testosterone that is detected by the brain and  LH goes down. The testes are not instructed to make more testosterone, consequently there is insufficient testosterone in the testes to promote sperm  production and growth.  

Told you it was fascinating.    

Klinefelters is a primary form of male hypogonadism, as it's the testes themselves that are affected.  Kallmanns is a secondary form of male hypogonadism (in males)  as it's the  part of the brain that produces gonadotropins, and LH is a gonadotropin, that is affected.      

As KS doesn't manifest until after the onset of puberty (Williams Textbook of Endocrinology 8th Edition)  I seriously wonder how these websites and other publications get away with claiming KS causes delayed puberty!

What a load of nonsense!  

All males who experience puberty, experince puberty within a certain range of age, why should XXY males be any different?  Gonadal hormones do not initiate puberty, gonadotropins initiate puberty. Gonadotropins in XXY's tend to be elevated after the onset of puberty, as the testes cannot produce testosterone and sperm to the necessary levels, so to my way of thinking, XXY's ought never experience delayed puberty, but frequently incomplete puberty..... maybe that what those other sites and publications mean, but they're aiming their information at regular XX's and XY's who probably can't grasp the difference between 'delayed' and 'interrupted?'

I experienced puberty at the same time (or earlier) than my same age peers, and I recall it fondly.  Not that I was actually told anything of what to expect, not that there were ever any classes at school warning us boys on what to expect, not that anybody gave a sh*t about educating males  about sex, but I still recall that time fondly.  It was one of the few times in my life I was actually ahead of everybody else, in physical development.   So whoever wrote those crappy books and articles about XXY's and puberty, never knew me or took people like me into account.... AND...... I have many case studies and longitudinal studies that make no mention at all of delayed puberty!   

It's a fascinating, mosaics tend to have less severe manifestations  of KS owing to them having some normal cells, presumably scattered about their bodies in a uniform fashion? But you, fascinatingly, have severe and mild manifestations.  Late onset breast development doesn't indicate to me something to do with additional X's more like additional fat in the chest region. That would also account for high estradiol as fat is an oestrogen factory!  Of the XXY's  that have actually participated in studies only (roughly) 30% develop breast tissue, and they're all teenagers, and super skinny, like I was when I was first diagnosed.

There's absolutely no reason I can think of as to why you'd have hormone fluctuations, the testes don't  fail then right themselves, then fail again, once they fail they stay failed.  I suppose if you were an obese child, and an obese teen that would cause over production of estradiol which I suppose could cause depression if you suddenly lost weight then suddenly gained it again, and lived that way for years? However I'm not even sure if that's physically possible?   If I had a child who gained and lost weight to that degree in childhood for no apparent reason I'd definitely be getting him/her checked out.

At your age your balls ought to have been atrophied for years, I mean married for 16 years, how young can someone marry in a place that uses pounds as a unit of weight measurement?  16 with parents permission, you'd be at least 32, my balls were less than 1.0 mls volume when I was 16, but I'm positive they were bigger than that when I was 12!     and all the XXY guys I've met in person report tiny testicles as the reason for their diagnosis.  Now of course it's conceivable that XXY's (and mosaics) can exist with normally sized balls, if they don't have the additional X in the cells of their balls there's no reason for them to atrophy, but then those cells aren't going to import X's to them later in life, if they're normal at puberty they'll stay normal, if they're abnormal they'll atrophy.  And that normal atrophy of XXY's takes less than 4 years to manifest after the onset of puberty.  So what sceanario needs to exist for an XY/XXY's balls to atrophy after age 30,  could it be rampant imagination?  

You have banked sperm, but your wife has fertility issues too, what bad luck!  You're having to use a donor egg, so what went wrong the first round of IVF?  There's can't be anything wrong with your sperm, as you can't have many additional X's in the cells of your testes, so whatever sperm you had banked must be of good XY quality.        

     .   

Hello JessXXY,  

that's a curious name, I've seen before, in another life.    What can you  do for your son?   Well you can feed him, love him, house him, look after his basic needs, and when he screws up not beat him up.  Children don't like being beaten up.  All children love to please their parents, all children love spending time with their parents, that's NORMAL children.  I'd advise, if I were asked, "Never send your children away, they'll grow up and leave home soon enough."  

As you have advance warning of possible problems, you're in the prime position of finding out what those possible problems are, and get the right assistance.     It may be that your son reaches his early milestones later than other boys?  He may begin to sit up later, walk later, talk later?   Of course it may be that he has none of those issues too!  It’s really hard to say how any XXY diagnosed prenatally will develop, parents have to be attentive, they have to be looking.  So you can do that, you can observe.

When your son starts school, he may have learning problems?  He may have difficulty learning to read?  He may have a poor short term memory?  He may have AD/HD leaning heavily toward the attention deficit side?  I very much doubt you’ll have child who rushes about a lot,  I think it’s more likely he’ll need encouragement to move rather than stop.  

Yes, my reading, and my experience tend to line up, XXY boys start puberty at about 11 years, of course that can also be after 11 or before 11?  The way it is for all other normal boys.   Some doctors want to start these boys on testosterone at about 11, but I’d say the overwhelming opinion is that the boys should show obvious signs of hypogonadism before they begin therapy.   It is conceivable that XXY boys will have their linear growth stunted if they start hormone therapy too early, but if the boy is 11 and nearing 6 feet tall starting then would be a damn good idea.  Hopefully you’ll have a doctor who treats your son according to his needs, rather than according to any long held theory?

I wasn’t diagnosed until after I stopped growing, so my experience in that regard is worthless to your sons’ therapy.

Now then, some parents have a problem when their XXY boy starts therapy I’ve noticed.  Of course all the boys I’m remembering started puberty normally, and started masturbating, that’s what boys do.  However later in puberty boys masturbate more and more, and sometimes  even need reminding that’s not a public activity, that’s normal boys.   But the parents of some XXY boys think testosterone causes their boys to masturbate more than boys ought to,  not that there’s any set limit!  So these parents want their sons’ therapy stopped, or not started until much later.  This is the unstated reason why many doctors don’t like 11 year olds starting therapy too.   Parents generally don’t talk to their children about sex, but now you have at least 11 years  notice of what might become a concern, so you can work out what you will do, you’re so lucky.  

I think testosterone therapy should be administered as soon as the boys’ body says it needs it, when LH and FSH are elevated.   

Hello! I've been looking for someone who also had this diagnosis via prenatal testing! It seems so hard to find current conversations about it... and I'm new to the whole forum thing!

I had the Harmony blood test, which concluded that my son had xxy chromosomes. I was soooooo worried... And sad... And felt guilty... And a million other things! I guess I still need to have HIS actual blood tested for it to be an official diagnosis.

He is two years old now-- Gorgeous, friendly, affectionate, smart, and adds so much brightness to my life! He is like any other toddler, except his verbal speech might be a bit delayed. But... My 4 year old was the same way and speaks nonstop now! 😜 So, I'm not convinced it's related since kids are all so different anyways.

Like you, I'm just trying to make sure I'm doing everything I can for him! It used to consume many of my thoughts as I'd worry for him... But I rarely think of it at this stage... And I focus on the joy!!!

I hope your pregnancy is going well!

Especially in regards to Testosterone treatment ...you made perfect sense! It has been great talking to someone who has walked in those shoes....rather than someone who has read a textbook. ☺

I don't want to be a helicopter mum nor do i want XXY to become my dons identity. I want him to know he is more than that. Which is why id only discuss this with him in puberty when we discuss testosterone therapy and the struggle with having children of his own but that it is possible with the help of ivf etc. If we can I'd like to give him the opportunity to freeze sperm if he produces any so that he can one day have children of his own if he wants to.

We just recently found out my son has a hole in his heart too which i was wondering if it was related to klinefelters or whether its not related at all.

I don't know what a 'helicopter mum' is.  Anyway....  ummm, I've never heard of a hole in the heart as being associated with XXY, so I went and looked it up.   This is part of what I found:

"In males with Klinefelter syndrome, or 47, XXY, there is a fifty percent incidence of CHD, with patent ductus arteriosus and atrial septal defects prevailing [5]."

CHD is congenital heart defects,  and "hole in the heart" is  "Atrial Septal Defect"  so XXY could be related  to your sons' condition?  

So I searched Google with "Klinefelters syndrome and heart defects at birth"   and found the article I quoted from in the American  NIH website and it was published in 2011.

If I had an XXY son, I wouln't use my mothers sex education technique.    My experience is that I have to have all things I want to learn repeated over and over again.  Even today that how I learn.  I'd talk to my XXY son, if I had one, about sex often.  I don't think I'd wait until he was 11 before I started.  Teaching him that sperm come from testes and ova come from ovaries  would be basic information       

I think all children should learn about sex before they reach puberty.  They should know what to expect before it happens, to reduce the anxiety of changes they experience, or don't experience.  They ought to be confident to ask why somethings have not happened in them when they were expected to happen.  If the child has genetic differences there's no need to go into them immediately, but I wouldn't deceive or lie to my child as many parents have done when advised to by their doctorts when the child has sex related issues.  

I think parents lying to their children is the biggest mistake they can make.  This lying is common when the daughter has Complete Androgen Insensitivity Syndrome. She has XY sex chromosomes, no internal female reproductive organs, and  internal testes.  Of course her body can't respond to androgens which is why she develops as a female.  The testes are non-functgioning and redundant.  They are almost always removed when the  child is discovered, which often when puberty fails to start.          

No i don't believe in lying to children. ..i meant i don't want to make xxy my sons identity. Make him think he is different to everyone else and give him a complex. By telling him all the time about his syndrome or blaming his syndrome on things.I think if you do that you are setting your child up for failure. You are giving them something to hold them back. I'd rather my son know things to do with the syndrome as he needs to and work on his confidence so that he can have a good mind set for when it comes time to share those things with him.

I know people with illnesses that let those illnesses hold them back...because they know they have them. They know the ins and outs and all the symptoms. They didn't have a chance to build a good mind set and confidence...it was just dumped on them and thry became their illness.

All kids should learn about sex ed early...i believe that anyway. 😄

I'm wondering if the hole in the heart is also an indication to the severity of his symptoms or whether its unrelated. As we were told we couldn't be guaranteed into our sons mental capacity. As xxy ranges from normal to very seriously mentally disabled (or so we were told). No pre natal trsting can tell us about that side.

Oh a helicopter mum means hovering over your child all the time...i guess slightly overbearing is another description 😂🙊

Apart from the medical professions being really slow to change, so is the education system.   When I went to high school XY was male and XX was female, there wasn't anything else.  

I went to a conference in America once where the XXY boys there all that could walk and talk knew they were XXY, not all had attained puberty though.  I know if my parents knew they wouldn't have bothered trying to tell me.  They thought I had a form of epilepsy, which I didn't, I actually had AD/HD Inattentive Type,  which looks a lot like Petit Mal Epilepsy.  They couldn't figure out how to explain it to me, so they said nothing.  I discovered it when I was an adult, after I was diagnosed with KS, and a relative asked if that had anything to do with the Epilepsy I had as a child?  So first finding out my parents had told the family about my genetics was disconcerting, and at the same time finding out I suposedly had Epilepsy was just annoying.  My parents could talk to anybody except me.

So if they had a proper plan to talk to me about sex, and they knew I was XXY, they could have included that information in their sex talk.  Dads know all about male puberty, they really ought to be the ones to impart the information as they know exactly what will happen, but my experience is they don't say a word. None of my friends were ever talked to about sex by their dads, I discovered.  

So as you have an XXY son, he will want to know about sex, and XXY is all about sex, so that will be the perfect time to include discussions about it.  Again, you are just so lucky to have an early diagnosis, you have plenty of time to work out what you will say, how you will say it, and who will be saying it.

There are lots and lots and lots of different things associated with being XXY.  Education, social learning, self confidence,  trust, acceptance, fertility,  sexual dysfunction,   and they can  manifest earlier or later in life.  I don't see how telling him about any of the things not affecting him, just yet, that might affect him later, will cause him to be as you think about his  self.   What I can say for certain is that when information is withheld the afflicted think the matters are much worse than they are.  XXY guys worry a lot, and worry achieves nothing.  Will the curent batch of XXY's be worse off, or better off, if they know aspects of the truth from age 9?   For me this is an interesting discussion, for you a practical reality.  What you think is best will happen, you're the parent.