mosaic klinefelter

[xxUltraModLadyxx]

after alot of research, i found out there is alot of evidence i have mosaic klinefelters, meaning some of my cells are xy others are xxy. i was karyotyped years ago. they extracted an xy chromosome. a conclusion was drawn that i had "normal" chromosomes. there was a time years ago where there was concern over my development. i had many blood tests done, and an mri. they couldn't find anything. i was developing breasts, and had wide hips, weak muscles, and am lanky, low energy. before i got onto hrt, that was my development. my voice remained female pitched. on a side note, i have aspergers, expressive receptive language disorder, plus learning disability in math. much of my research shows a strong relation to klinefelters. the diagrams look like how i did. i think this conclusion i have drawn would make me feel like i really understand myself full circle. even if i am living as female, and am on hrt. i have been affected alot of my life by these things, and am ready to move on and just live in harmony with myself. so i guess the question is should i get rekaryotyped, should i just settle for my research's answers, or does it even matter if a doctor knows about it?

[Lepidoptera]

If it hasn't had an influence on your HRT, it may not make much of a difference if your doctor knows about it. However, it could be helpful for your own peace of mind and if you do get a diagnosis it certainly couldn't hurt to inform your caregiver as well.

How long ago were you karyotyped, though? My nephew's mosaic Klinefelter's was discovered almost fifteen years ago and they hadn't been specifically looking for it, as he showed no symptoms at the time. With mosaic Klinefelter's, the signs tend to be weaker the fewer cells have the extra X chromosome. I'd caution you to not get too emotionally invested in this before a diagnosis, as I know it can be very depressing to be proven wrong when you are hoping to find answers from a specific syndrome to explain everything.

Good luck.

[LifeInNeon]

What kind of cost is involved in such testing? I am in a different situation where I have no need to "explain" or "justify" my transsexuality using intersex. But I did have significant gynecomastia (enough that I was pricing out reduction surgery in 2010) despite being rather thin, and different doctors have diagnosed myriad mood and development disorders which I have well-controlled but I know I struggle with. I never got a baseline (sadly) but within a matter of a couple weeks my hormones were in normal female range once I started HRT. I know it's a specious link, especially without the baseline, but I've often joked about how my body was "ready and waiting" for estrogen because of how rapidly my body development took place. Basically, female puberty had started and stopped once before when I was a teen, and once I started HRT it picked up again right where it had left off. So I skipped right over the several months lead time many trans women have where little is happening. I'm also in the "peace of mind" category with wanting to eliminate it from consideration.

[xxUltraModLadyxx]

If it hasn't had an influence on your HRT, it may not make much of a difference if your doctor knows about it. However, it could be helpful for your own peace of mind and if you do get a diagnosis it certainly couldn't hurt to inform your caregiver as well.

How long ago were you karyotyped, though? My nephew's mosaic Klinefelter's was discovered almost fifteen years ago and they hadn't been specifically looking for it, as he showed no symptoms at the time. With mosaic Klinefelter's, the signs tend to be weaker the fewer cells have the extra X chromosome. I'd caution you to not get too emotionally invested in this before a diagnosis, as I know it can be very depressing to be proven wrong when you are hoping to find answers from a specific syndrome to explain everything.

Good luck.

when i was 12, i was karyotyped. it was 7 years ago. time flies. anyway, i feel like after so much of being on a marry go round trying to figure myself out, it all seems to point in the direction of klinefelter's. years ago, i felt like that was so much like me. i heard that it involved XXY chromosomes, but realized only recently that it also had a mosaic form. who knows? i could have another half of cells that are XXY. my XY chromosomes were probably found on a coin flip of a chance. not necessarily a definate. your nephew may have gotten a lucky karyotype where they drew XXY, either that or has more XXY than XY. my signs were pretty prominate. i basically could use the diagrams as a model for myself before hrt. now, with estrogen, i have become more female looking, so it's different now. with the written descriptions, alot of it describes me. it would be pretty awkward to be having someone looking at my XY/XXY chromosomes being presented as female, so that is something i take into consideration.

[xxUltraModLadyxx]

What kind of cost is involved in such testing? I am in a different situation where I have no need to "explain" or "justify" my transsexuality using intersex. But I did have significant gynecomastia (enough that I was pricing out reduction surgery in 2010) despite being rather thin, and different doctors have diagnosed myriad mood and development disorders which I have well-controlled but I know I struggle with. I never got a baseline (sadly) but within a matter of a couple weeks my hormones were in normal female range once I started HRT. I know it's a specious link, especially without the baseline, but I've often joked about how my body was "ready and waiting" for estrogen because of how rapidly my body development took place. Basically, female puberty had started and stopped once before when I was a teen, and once I started HRT it picked up again right where it had left off. So I skipped right over the several months lead time many trans women have where little is happening. I'm also in the "peace of mind" category with wanting to eliminate it from consideration.

it's hard to say the cost since my mom is the one who payed for it, but common sense and just some things i've heard through the grapevine tell me it's on the expensive side since they are using a cell to get a chromosome reading which i imagine takes more work than bloodwork for your blood chemistry. your symptoms sound alot like mine.

[Lepidoptera]

when i was 12, i was karyotyped. it was 7 years ago. time flies. anyway, i feel like after so much of being on a marry go round trying to figure myself out, it all seems to point in the direction of klinefelter's. years ago, i felt like that was so much like me. i heard that it involved XXY chromosomes, but realized only recently that it also had a mosaic form. who knows? i could have another half of cells that are XXY. my XY chromosomes were probably found on a coin flip of a chance. not necessarily a definate. your nephew may have gotten a lucky karyotype where they drew XXY, either that or has more XXY than XY. my signs were pretty prominate. i basically could use the diagrams as a model for myself before hrt. now, with estrogen, i have become more female looking, so it's different now. with the written descriptions, alot of it describes me. it would be pretty awkward to be having someone looking at my XY/XXY chromosomes being presented as female, so that is something i take into consideration.

Unfortunately, if it was done recently and they were specifically looking for chromosomal disorders, it seems unlikely that they missed it. I wouldn't discount it entirely, but Klinefelter's isn't very likely under these circumstances. If it was missed, that would imply that there are fewer XXY cells present than in those who are easily diagnosed...and yet the way you describe your symptoms, that sounds far more dramatic than such mild mosaic Klinefelter's should be.

A specific cause of gynecomastia isn't always diagnosed and some XY individuals simply don't develop a very masculine look. Hormone imbalances, mild insensitivity to testosterone that doesn't pass into PAIS territory, there are all sorts of possible causes. You may never be able to nail it down. I do hope that you can find something that makes sense of all of this for you, but please prepare yourself emotionally for the possibility of never having an answer. It happens, frequently.

[xxUltraModLadyxx]

Unfortunately, if it was done recently and they were specifically looking for chromosomal disorders, it seems unlikely that they missed it. I wouldn't discount it entirely, but Klinefelter's isn't very likely under these circumstances. If it was missed, that would imply that there are fewer XXY cells present than in those who are easily diagnosed...and yet the way you describe your symptoms, that sounds far more dramatic than such mild mosaic Klinefelter's should be.

A specific cause of gynecomastia isn't always diagnosed and some XY individuals simply don't develop a very masculine look. Hormone imbalances, mild insensitivity to testosterone that doesn't pass into PAIS territory, there are all sorts of possible causes. You may never be able to nail it down. I do hope that you can find something that makes sense of all of this for you, but please prepare yourself emotionally for the possibility of never having an answer. It happens, frequently.

i don't think i got it done in the most precise fashion. in fact, the lady who drew my blood said before to one of her coworkers "i don't know how to do a chromosomal karyotype." they weren't assigned to specifically look at the sex chromosomes, so they probably looked at everything else in the one extraction, everything looked normal on the surface, and that was it. it can take multiple tries to find an XXY combination in a mosaic klinefelter, which i'm doubting they took into consideration given the circumstances.