Synobun
Deity
- Joined
- Nov 19, 2006
- Messages
- 24,884
TIL: Today I Learned
- Thread starter Cutlass
- Start date
- Status
...so...you're a chimera? (exists for humans too... and since hermaphrodism was already brought up)
There's also this disease when a chromosome breaks apart and re-assembles randomly (chromotrypsis), but that normally gives extreme problems.
But so... nothing then with chromosomes?
GoodSarmatian
Jokerfied Western Male
- Joined
- Apr 25, 2006
- Messages
- 9,408
Mosaic to be pedantic. A mosaic is like a chimera where all cells come from the same zygote.
Well, XXY would've resulted in being a hermaphrodite.
But not in every cell…
Some sort of blood cell condition, maybe.
OK, since I don't want to drag this out I'll say that Takhisis is right and wrong.
I have an extra X chromsome in many cells.
Having an extra X chromosome in a male doesn't make you hermaphrodite (which probably would have been diagnosed earlier that in my thirties), it's a condition called Klinefelter syndrome.
I'm male, with male genitalia and a beard, but have a more female body type with small man boobs, long limbs and wide hips. Explains why I always look a bit wrong in pictures that show more than just my face and can never find clothes that really fit me.
There's a launrdy list of other fun symptoms. Everything you would expect from low testosterone levels: lower libido, relatively weak muscles, more body fat.
Other symptoms are increased clumsiness, being a generally "low energy person", relatively brittle bones (I only once broke my left arm as a child by falling) and "generally normal intelligence but learning disabilities".
I'm...ambivalent....about the whole situation. Many symptoms can be easily treated with testosterone supplements, which means I'll probably be fitter and feel younger and just better now than in my early 20s, and maybe even get stuff done, but it's utterly infuriating that I didn't know about this decades ago, especially because it's one of the most common chromosomal disorders. At least I'm not alone. Most cases go undiagnosed and some people believe that George Washington and Tom Cruise had/have it.
As you can probably guess, there is a pretty huge variance in severity. Some people have the mosaic form while others have the extra X in every cell.
I only found out about it from a damned cracked article a few weeks ago, recognized the symptoms and went to the doctor.
That dude has probably a much more severe case than me.
http://www.cracked.com/personal-exp...-energy-malaise-my-super-awkward-illness.html
I quickly did some check on Wiki and further on Pubmed... you're pretty unique. Wiki says only 10 people have been described iwth mosaic Klinefelter syndrome.
Also read that there's an estimate that 60% of people with Klinefelter syndrome never get diagnosted, so at least your doctors were not totally incompetent.
EDIT: Also: Whoa, pretty weird. Only looked this up because the scientist in me said this cannot be very common. Your local universitie's genetics department will probably be very interested in you. That might be akward, but if they're good at anything, then there might be a possibility that they know a few more things to help you.
Get the testosterone, if you're unhappy with the situation as is, and see if it helps. The sooner, the better.
And obviously good luck with this, you might need it.
Also read that there's an estimate that 60% of people with Klinefelter syndrome never get diagnosted, so at least your doctors were not totally incompetent.
EDIT: Also: Whoa, pretty weird. Only looked this up because the scientist in me said this cannot be very common. Your local universitie's genetics department will probably be very interested in you. That might be akward, but if they're good at anything, then there might be a possibility that they know a few more things to help you.
Get the testosterone, if you're unhappy with the situation as is, and see if it helps. The sooner, the better.
And obviously good luck with this, you might need it.
Last edited:
GoodSarmatian
Jokerfied Western Male
- Joined
- Apr 25, 2006
- Messages
- 9,408
The only 10 people part refers to the 47,XXY/46,XX type. I don't know how common how the 47,XXY/46,XY type is, but it's probably far more than 10 people.
Yeah, well, it was only diagnosed after I went to my doctor and said "Hey, I think I might have Klinefelter syndrome...
I have another appontment in two weeks. Then I'll start treatment.
Edit: Did a bit more searching. Only 20% are mosaics, but there are a lot of variations. Some people have more than two karyotypes.
Last edited:
He said it was relatively benign.
This doesn't happen that often.
Are you willing to let the local university, not to beat around the bush, study you? → this might net you $ in some places, although 'schland isn't as commercial as the U.S. of A.
Last edited:
GoodSarmatian
Jokerfied Western Male
- Joined
- Apr 25, 2006
- Messages
- 9,408
I don't think I'm that interesting, but why not ?
If I had some celebrity status I would probably constantly talk about it to raise awareness. Pretty pissed that such a common disorder is still rather obsure.
Well, here's your chance to make it less obscure.
That depends on how many more than 10 people there are ^^.
And if anyone at the local university/university hospital is studying genetic disorders, they might be interested no matter what.
Also, you might get you some health check advantages, since there's a possibility that they'd measure a lot more than a normal doctor would.
Which could be important, due to the mosaicism. Not in that scientific field, so just speculating... wiki says that the mosaicism can be variable per type of tissue. Means it could be different depending on organ, which also means that the effect of the testosterone could be variable on a per organ basis. Which might mess things up, since not all changes might progress in the same way everywhere. Therefore having a check with a clinical geneticist is probably advisable, just to be sure. Your doctor should have a look if they can refer you to a real specialist.
Lexicus
Deity
Here if you have $200,000,000 it doesn't matter how rare or bad your condition is, you'll live to 120 and have only the best bowel movements
dusters
Emperor
@GoodSarmatian
I read your story and it got me thinking. I was in same shoes - until I went to doctor when I was 18-19, nobody thought of transsexualism. Like - I got called gay all the time during school, got bullied for having long hair and nails, but nobody ever told me that it could be the case. In a post USSR country even many doctors haven't heard the word in 90s and early 00s.
I can only be glad to be born in eighties - being born earlier would have been much worse. Got diagnosis in 2005, started treatment in 2016, because the welfare system doesn't cover it and it is expensive to transition.
What about your treatment? Do you have to pay for anything yourself?
Also I realised that transition forces me to be on low testesterone all the time and as of now the female counterparts of hormones don't give me as much energy and vitality as I had before I started transitioning. It may change after I do surgery, but right now I feel a bit handicapped. Maybe it is my doc's fault, because options are there, but she is really inexperienced.
I read your story and it got me thinking. I was in same shoes - until I went to doctor when I was 18-19, nobody thought of transsexualism. Like - I got called gay all the time during school, got bullied for having long hair and nails, but nobody ever told me that it could be the case. In a post USSR country even many doctors haven't heard the word in 90s and early 00s.
I can only be glad to be born in eighties - being born earlier would have been much worse. Got diagnosis in 2005, started treatment in 2016, because the welfare system doesn't cover it and it is expensive to transition.
What about your treatment? Do you have to pay for anything yourself?
Also I realised that transition forces me to be on low testesterone all the time and as of now the female counterparts of hormones don't give me as much energy and vitality as I had before I started transitioning. It may change after I do surgery, but right now I feel a bit handicapped. Maybe it is my doc's fault, because options are there, but she is really inexperienced.
GoodSarmatian
Jokerfied Western Male
- Joined
- Apr 25, 2006
- Messages
- 9,408
It's fortunately covered by public health insurance because it's a recognized genetic disorder.
I don't really know anything about that. Is that common or could there be another reason for it ? Not all of my symptoms can be explained by hormone levels only, but it's the only known treatment so far.
dusters
Emperor
There could be another reasons for it, like I have a small heart size relative to my height, I have asthenia due to being too tall for my frame etc. Yet the testosterone levels for women are on a scale and my doc insists me to be on the lower end of that scale. So when I read your post I realised that there may be some kind of coctail of hormones/ chemicals I'm missing out and I need more information to see if I'm right or wrong.
So thanks for the motivation to do some research.
So thanks for the motivation to do some research.
It's interesting enough for half a dozen or so people to have tried to guess what it was and ask more about it, isn't it?
Timsup2nothin
Deity
- Joined
- Apr 2, 2013
- Messages
- 46,737
"To quieten" seems to have all the typical forms. Quietens, quietened, quietening. I think that quietening might be the only form I've ever seen used, though I can't guess where. It just looks more familiar.
I agree that it is a word. It reminds me of the time I watched the second Highlander film and turned down the volume slightly every time I heard some objectionable dialogue. After all, it was called Highlander II: The Quietening.
Chukchi Husky
Lone Wolf
By about 12 minutes in it was muted?
- Status
