I'd like Patient UK to change some information?

Men's health
1

Hello, I was suspected of having Klinefelter's syndrome in late 1975, I was karyotyped in 1976, and I began therapy in 1977.

I have been studying Klinefelter's syndrome since 1976. I believe I am the most knowledgeable patient treated for Klinefelter's syndrome in the world. I certainly know more about it that ALL but 1 of the doctors I have met. Most doctors haven't got a clue.

The information here is old and out of date. It promotes all the commonly held misconceptions about what KS is, and how it's caused.

This is information from a British doctor:

"An unduly pessimistic description of what it

means to have an extra X or Y chromosome is

frequently given to the parents of an affected

fetus or child by geneticists and paediatricians

because the source of their information has

been biased towards abnormality..."

Dr Shirley Ratcliffe

"Long term outcome in children of sex chromosome abnormalities"

1999

I'd like to influence Patient UK to update it's information about KS, to make it more appropriate and representing the truth. I think truth is important.

2

Weird, was only reading your blog last night after having found you on the tube, and so the answer to my question is everything that is out there on the net about this is out of date at best for I don't have Klinefelter's but I am 47,XXY, but because I am XXY doctors say I have Klinefelters which is a condition which can affect XY males as well, but hey my T levels are normal, LH is normal but FSH is in the clouds. As to doctors my experience so far is they either know nothing or defer to the same out of date information and supposition as the internet is filled with. The result is, I educate myself on my own condition, narrow beam focus, the autistic like part of this helps. As to androgen replacement therapy I am not on it as I don't have KS, but I experience a lot and as a result I am not living.

3

Oh hello Andy, I just popped by to 'follow' the post as I forgot when I published it, and I find a reply already! Amazing. OK Right, I'm not a doctor, I'm a patient, I thought I'd throw that in. I read a report just a couple of days ago about KS being associated with normal gonadtropin levels, LH and FSH are gonadtropins.

So if FSH as elevated that means your testes are not making sperm, according to my Endocrinologist, John W Delahunt, Wellington, New Zealand.

Yes most of the information on the net about KS is crackpot, in my opinion. KS is also associated with normal levels of Testosterone, low normal that is. It's easily possible to have KS with normal looking T levels. Do you know where your T level actually is, have you got any numbers?

4

Hi Graeme,

I will send you a Private Message about this and your other post waiting for approval as it contains your email address.

Regards,

Alan

Emis Moderator

5

XXYGuy,

I'll take your word for it that you have a lot of experience with klinefelter's. I am sure I don't have klinefelters, but I am a bit curious, because I have not studied this, but have been studying many other issues surrounding me, so I might as well learn about this.

Therefore, please advise who are the top, world respected experts on klinefelters and a link to their writings (or at least one), pm, or otherwise, whatever is allowed on here, of what the correct identifiers to be given a diagnosis of klinefelters are, from childhood to late adult.

Basically, I am looking for a "quick" summary (whether it be 10 lines, one page etc) of a typical 30-40 year old klinefelters male, who has never been treated for it, namely their endocrine, psychological and physical traits.

I am aware that whatever you write will be your opinion, and I will take that accordingly and delve from there. I am a modern person who has tapped into the depths of the vast amounts of credible scientific information online, so you won't lose me with technicalities lol. smile

6

Actually, I have been reading and I seem to have ruled out klinefelters. I read your blog as well, I can see you have good knowledge, so I hope your experiences are taken on board by the relevant departments.

7

Off the top of my head John, I'd say Dr Arthur Robinson, Denver, Colorado. Dr Shirley Ratcliffe, England (ret) Dr Bruce Bender, Mary G Linden (nurse), These are medical researchers by the way, I don't know if they actually practice?

Somebody Schwerdloff or something like that, I met him in person, he wanted to examine me, but I've retired from physical examinations. I no longer have testes so there's nothing to examine, the driving force to have them removed. To be left alone.

8

I like to point out that I'm a patient, not a doctor. When I first started educating people about what KS is, and what it isn't, I got accused of giving medical advice. It was ridiculous. I don't do case studies, I can't give you anything of what you're asking for John.

There no such thing as a 'typical' KS guy. We're not typical, we're individuals. Like XX's are individuals and XY's are individuals, and X's are individuals. X's what are X's? Women with Turner syndrome! We're human beings not case studies. That's what I'm trying to get people, (doctors are people), away from, this whole idea that we can be fitted into a specific treatment regime, it's just nonsense.

Some XXY's don't even see themselves as being male. Some XXY's take oestrogen not testosterone. XXY is the key here, not variable symptoms of a disease.

We are people first.

9

I was diagnosed 4yrs ago when i was 19 can it lead to any kind of mental illnesses as ive been refereed to see aphychiatrist due to me flying off the rails over nothing?o

10

Oh right, I used to do that, all through school, and after for a few years. Is XXY responsible, I think so. Of course only you know your specific circumstances. Seeing a psychiatrist sounds like a very good idea.

11

Also does it mean i wont be eligible to have children

12

No, chitiger, you may not be biologically able to have kids although apparently there are increasing chances of extracting sperm (debatable).

13

It can't be assumed you're infertile without extensive testing. You can use ICSI, IF you have a partner in mind,, if you have an egg, and if you have a sperm, just 1 will do.

It's not really a 'debate' more of a fact, you either do or do not have sperms that can be extracted for ICSI.

Search for Dr Silber, and ICSI combined, you'll find everything you're looking for, Dr Silber is also on Twitter.

14

Thanks XXYGuy, I has the sperm extraction procedure this week and they found little there except blood so it is pretty much conclusive that I am infertile. The next step is donor...

15

Thanks guys. Bikerunner how do u feel knowing u are infertile? The thought of it for me is doing my head in

16

Yes, the realisation has made for a tough year. I always thought there might be a slim chance of them finding something so the procedure last week was like a slap to the face. My partner has said, wisely, that although I cannot be a father biologically, I can always be a father in the nurturing sense. I can be someone who can be a role model and the offspring would be at least part of us as she would be impregnated. Once I get past the whole sadness of this, I guess I can adapt.

17

I'm the father of 2 children gentlemen. We all know who the donor of the sperm is but my children have only 1 father, me.

Families are about relationships not genetics.

End of story.

18

Thanks for that XXYGuy, I'm slowly coming around to that idea but it's still raw for me, especially when I have brothers and sisters with children plus loads of mates who have the same. I also work as the only male on a female staff - at least two of them are pregnant at any one time - so there's always something to remind me.

I've only known I have KS since April so loads more adaptation required.

19

When I was 17 it was the end of the world Bikerunner to learn I was sterile, and I was sterile too. There was no possibility of any kind of therapy no matter how much could be imagined. It was a huge worry fr me for many years, and I wasted a lot of time in that worrying state, only to come to the same conclusion over and over again. There were also all the other issues I had in my life that I had no idea had any relationship to being XXY. I didn't start understanding that until well after I was married. So it was the end of the road for me, I'd totally had a enough of living, when I was 17.

There was no information other than library books, and they were so far out of date, according to one library I was mentally retarded. I got some hope out of that, I can't have KS and I'm not mentally retarded. That hope lasted about a week until I got to another bigger library.

I was hopeless at talking so even if there was someone to talk to, what was I going to talk about? I wanted to read stuff, and there was nothing. There was no internet, the same as everybody before me and for many after me. The generation since 1994 in New Zealand has been the most well informed generation since 1942, and still, for most of us, the possibility of being naturally fertile is zero.

When ICSI was first developed it was toted as being the 'cure all' for all XXY guys, but that isn't the case. It all depends on two things, 1, how big your balls are, and 2, how skilled your surgeon is. The newest technique for ICSI involves removing entire Seminiferous tubule bundles from the testes, and micro-disecting them in a dish (effectively) it is much more complicated than that.

My testes were officially 1.0mL bilaterally, but that's only because the orchidometer only goes down to 1.0mL In reality they were both much smaller than 1.0mL and whatever testosterone they were producing was enough to not cause LH to rise, and there was only a slight increase in FSH. So I didn't fit the pattern expected. I'm not excessively tall, and I never have been. I was really interested in sports as a child, I even got picked a couple of times for our Primary schools Rugby team. I enjoyed sports, and I was very competitive before puberty, and after the start of it too.

Anyway, I don't know how big your balls are now, but they need to be about 6.0mL in volume for you to have any chance of having just 1 sperm. I do have a picture on an XXY guy with balls 6.0mL's so I know it's possible. And Dr Silber says 'the bigger they are the better.' So less that 1.0mL is really not big enough.

XXY is chronic, KS doesn't have to be. Do every legal thing you can to have a family, if that's what you want achieve it, don't just worry about it, do it. When you've sacrificed everything you own and have not achied a family then you can say 'it's impossible' until then anything is possible. If you give up you'll spend your life regretting it. So don't give up. Whilst there's still breath in your lungs there hope, take my word for it, if you can't see anything good in your words.

20

I was told l had klinefelters syndrome when I was 31. Am on nobido testosterone replacement. Am gay wonder if many KS are gay l have just had a fertility test waiting for results am a 47xxxy. Are there any gus with KS in Uk