Turner Syndrome Support Group
Turner syndrome encompasses a number of chromosomal abnormalities, of which monosomy X, is the most common. It occurs in 1 out of every 2,500 female births. Instead of the normal XX sex chromosomes for a female, only one X chromosome is present and fully functional. In Turner syndrome, female sexual characteristics are present but underdeveloped.
wow I have a long story for you!
Well, I guess I'll start from the end and work back. In the past year I've been up to an investigation as to why I turned out so short statured (I'm 4'10" tall, both of my parents are or are very nearly average height). Nothing ever clicked (among types of dwarfism such as pituitary, even Turner Syndrome, etc). Until I found a website about the details of Turners with Mosaicism and how the amount of body cells missing an X or part of an X correlates to how many TS symptoms one will experience. I also found that strabismus, trouble with math, ear infections in infancy and problems responding to social ques are among symptoms of TS. So, take into account all of those symptoms I've experienced and then consider this; I saw a geneticist about a week ago for the purpose of finding out if I have TS mosaic and she said I look perfectly normal aside from my short stature (keep in mind she doesn't specialize in this sort of thing, she specializes in hearing and vision genetics). But she did do a gene analysis anyway.
I'm just wondering if anyone else has had a similar experience with their TS in that you turned out short statured with normal parents (not to mention almost no one else in my family is near my height, just one aunt and one second cousin), and developed normally but experienced some of the other symptoms of TS?
What you don't necessarily need to know looking at this is that I'm just desperately searching answers. I honestly still think there's a reasonable chance that I have the mosaic TS. Also, I want to make sure my fertility won't dissipate when I'm 28. Not that I'm aware of whether or not I'm fertile at the moment, that is. I've been on the pill for about three years. Oh, maybe you should know that I grew two cup sizes when I went on the pill. But that's from C to DD.
Well, I guess I'll start from the end and work back. In the past year I've been up to an investigation as to why I turned out so short statured (I'm 4'10" tall, both of my parents are or are very nearly average height). Nothing ever clicked (among types of dwarfism such as pituitary, even Turner Syndrome, etc). Until I found a website about the details of Turners with Mosaicism and how the amount of body cells missing an X or part of an X correlates to how many TS symptoms one will experience. I also found that strabismus, trouble with math, ear infections in infancy and problems responding to social ques are among symptoms of TS. So, take into account all of those symptoms I've experienced and then consider this; I saw a geneticist about a week ago for the purpose of finding out if I have TS mosaic and she said I look perfectly normal aside from my short stature (keep in mind she doesn't specialize in this sort of thing, she specializes in hearing and vision genetics). But she did do a gene analysis anyway.
I'm just wondering if anyone else has had a similar experience with their TS in that you turned out short statured with normal parents (not to mention almost no one else in my family is near my height, just one aunt and one second cousin), and developed normally but experienced some of the other symptoms of TS?
What you don't necessarily need to know looking at this is that I'm just desperately searching answers. I honestly still think there's a reasonable chance that I have the mosaic TS. Also, I want to make sure my fertility won't dissipate when I'm 28. Not that I'm aware of whether or not I'm fertile at the moment, that is. I've been on the pill for about three years. Oh, maybe you should know that I grew two cup sizes when I went on the pill. But that's from C to DD.
deleted_user
I'm sorry, that got so verbose it's probably super confusing. I'm just wondering if anyone else is short statured but developed normally and has mosaic turners?
Melissa-Macaluso
I have Turner Syndrome I was diagnosed when i was six I'm 28 now. I am about 4foot 8 and I have experienced all of the symptoms that you have mentioned and everybody in my family is average height I pretty much developed normally, but was not getting my menstural cycle so I went on birth control I have been on it since I was fifteen.So I think you are right about having mosaic ts.
deleted_user
thankyou that's very helpful! I think it would be very easy for me to fall into wallowing in self pity if it were that the dr. was right and I'm just tiny by dumb chance.
Melissa-Macaluso
I'm glad it was helpful and I hope you get answers soon.
deleted_user
I just don't understand how it could be possible that I would turn out so petite in a family full of average sized people and be the only one who didn't make it to five feet for no reason at all.
deleted_user
I was diagnosed at about 4 months old. I am 4 10 and have experiencd many of the things you discussed. My mom is 5 7 my dad is 6 1 my sister 5 9 and my brother 6 2 so you can see i dont exactly fit in with my familys norm either. My suggestion is get tested and go from there. Any questions just ask. Best of luck
deleted_user
Yep, I got tested! I'm just waiting for the results still now.
virgo77
Parisaddict everyone as you mentioned experiences TS differently. I will say emotionally there is a huge common thread. Its great you are proactive and getting tested. I say to you don't count your eggs before they're hatched and good luck
deleted_user
My test results came back, they studied 50 of my cells and found no abnormalities and then looked at 200 more and found that 99.5% of my cells had both X chromosomes. They are saying that since only one cell had a missing X I am normal, but I'm wondering now how many body cells everyone else has had examined? I question these results simply because they only examined 250 of my cells.
deleted_user
I Have Tuner syndrome and im 16 yrs old and i have nevered meant any1 like my that had tuner syndrome as well and I've hread that there is gonna be a Camp in California Malibu Ages 12-19, Girls with T.S and it's Starts on June 26-July 2nd and there is a lot of cool activities But yah That's all i know for know lol....
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