I got a call from this link that I was given on xxy talk forum in my intro. She kind of helped me out to let me know what they do. The thing is for me I'm dealing with really bad insurance. So its hard to figure anything out. I can't get a geneticist in my area that takes my insurance. My endo is taking forever to review my paperwork and my gynaecologist was gone for the holidays. I already went to a gynaecologist they said I had a level of prolactin but my PCP referred me to one again since my last gynaecologist didnt seem to know much on these issues. He said that xxy meant male so I couldn't have the karyotype even though my DNA test implied I do and mentioned genes having to do with sex reversal. So I'm still waiting right now I have nothing that confirms or denies I'm intersex officially other than the DNA and my pcps review of those results which he's actually the only one I gave the results to. And he said I should keep them for the next doctor appointments. But I still know no geneticist that can take my insurance. But good thing out of everything was I got a call from an intersex support group. She said shed put my in contact with the youth program. What's the hardest thing to do is explain my situation considering there is no name for the problem I have. I sometimes say Swyer's syndrome because people with Swyer's syndrome are identified as female at birth. And thats what happened to me. But I'm also xxy chromosomes. So my symptoms and situation is very different and very hiddeb. It was hard explaining on the phone that I'm intersex but not able to have a name for it. I ended up just saying I had an xxy karyotype and sex reversal genes. My major issues have to do with doctors and my own personal identity and finding out what exactly happened to make me this way... In a sense I get scared a tax because I feel like I didnt know this until I was 22 and I'm 23. So its like not like my family knows or that I had surgeries or anything. But the person on the line was pretty helpful she didnt seem to be too judgy. I'm signed up with another group for intersex women mainly ais.but DSD as well and it was and the administrator was very skeptical kept asking me if I was transgender I had to actually send a result of my DNA results showing I had a gene that had to do with y sex reversal genes I actually have two that I found but might have more idk. I don't have enough medical attention tbh... But anyway its been hard to find a good support group even online. Because I have found ones for specific conditions but I don't quite have a condition or diagnosis. My doctor referenced it as an intersex trait though.its so confusing and on top of it hard to explain considering this is the exception to most rare rules. And what I'm describing comes 1 in 20 million. So it sure feels lonely. Plus most women with my condition have no issues if they do its something random like you need medication to start the period or you started puberty early or  the uterus is small. I don't know its just a tad frustrating for me personally. Glad though that I finally got a call from them. I'm hoping to hear from them this week some time or next. Either or.

Sounds complicated ... I heard that XXY stands for Klinefelter Syndrome, but it could be a mix of a few conditions.
My intersex condition also hasn't got a name, and I'm 46,XX,t. There could be various combinations of intersex cases.

yeah I'm realizing that.

I don't know if this will help you with answers or not.

So if I read it right you had a karyotype test that showed XXY chromosomes? But you have a female phynotype (body appears female) ? Is that correct?

To find if you have AIS you need a test for AR gene mutation. (androgen receptor) I've looked into it and self pay costs at the labs that do it are around $1000 US. However AR gene is not the only possibility.

If you have a normal uterus according to your gyno then likely that Y chromosome had a mutated SRY gene on it. If so it would not produce a protein called TDF (testes determining factor). Without TDF no testes cells will form so normal ovarian cells should instead.

It's also possible for testes cells to form late in combination with ovarian cells. If those testes cells have a mutated gene they might not produce AMH (antimullerian hormone). Without AMH all other internal females organs form on their own. This will also prevent the T producing testes cells from forming.

If you have symtoms of Sawyer's Syndrome it can be that the Y chromosome is missing the SRY gene. Almost everything else on the Y chromosome is redundant genes so it may otherwise effect you like XXX would.

I feel like I may have just muddied the waters here. I have a paper on the process of fetal sexual determination if you want to read it. Kinda tries to go step by step what happens in all of us.

Contrary to popular belief, the thing that causes you to develop as male or female isn't actually X and Y chromosomes, it's whether you develop testicles or not. All the X and Y chromosomes do is determine whether you develop ovaries or testicles, everything from that point onward is determined by hormones. Male development is driven by the action of androgenic hormones produced in the testicles (primarily testosterone and a hormone derived from it called DHT), whereas female development is what happens if those hormones aren't there. If for whatever reason the testicles fail to develop, their hormones aren't produced, and you end up with a person who developed as female instead of male despite having XY chromosomes. That's what Swyer's syndrome is.

If you have an XXY karyotype, it usually doesn't prevent you from developing testicles, but that extra X chromosome messes up their development somehow so they don't grow to full size, and don't produce as much testosterone as would happen in a male fetus whose testicles had developed fully. There's normally still enough so that you develop a penis and look male when you're born, however the low testosterone may mean that your brain doesn't fully masculinise, and if that happens you can end up psychologically gender blended or even female identified. Caroline Cossey is a good example of a person who is, in her case, XXXY, and is transgender.

i'm not sure what's happened in your case, maybe you're XXY but it affected your testicles particularly badly so they produced very little testosterone during your prenatal development, so you came out female-looking. Maybe that's where the talk of Swyer's syndrome is coming from.

I know that some of the intersex people can get a bit touchy about intersex vs transgender, but in reality many transgender people have intersex traits, and many intersex people have nonbinary gender identities.

i really appreciate this post. its helped me a lot.

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I did further testing I was mistaken I actually am just a chimera most likely. But I am in the process of getting an official diagnosis. I'm probably a microchimera tbh the xy genotype was less than 10% of my genome. But I was told it depends on the organ basically...0

Quote from: josie76 on August 14, 2017, 08:29:49 AM
I don't know if this will help you with answers or not.

So if I read it right you had a karyotype test that showed XXY chromosomes? But you have a female phynotype (body appears female) ? Is that correct?

To find if you have AIS you need a test for AR gene mutation. (androgen receptor) I've looked into it and self pay costs at the labs that do it are around $1000 US. However AR gene is not the only possibility.

If you have a normal uterus according to your gyno then likely that Y chromosome had a mutated SRY gene on it. If so it would not produce a protein called TDF (testes determining factor). Without TDF no testes cells will form so normal ovarian cells should instead.

It's also possible for testes cells to form late in combination with ovarian cells. If those testes cells have a mutated gene they might not produce AMH (antimullerian hormone). Without AMH all other internal females organs form on their own. This will also prevent the T producing testes cells from forming.

If you have symtoms of Sawyer's Syndrome it can be that the Y chromosome is missing the SRY gene. Almost everything else on the Y chromosome is redundant genes so it may otherwise effect you like XXX would.

I feel like I may have just muddied the waters here. I have a paper on the process of fetal sexual determination if you want to read it. Kinda tries to go step by step what happens in all of us.

I was confused on what I was reading. My first two results are sry snps with normal proteins. What went wrong with my interpretation was the website was explaining if the sry proteins gg or cc go ary it causes sex reversal. I don't have ais. I have ovaries and all that I'm totally fertile. I just have a small percentage of xy karyotype most likely from a vanished twin early on. I was told by my doctor I most likely am a chimera and am actually scheduled to see a geneticist finally found one who takes my insurance. I did another test that showed I have less than 10% xy genotype.

Welcome to the intersexed with no name club.  I've been given a couple myself, but primarily I have no internal male plumbing on all my tests.   My 3 leading diagnosis are gonadal dysgenesis with mullerian structures intact, partial androgen insensitivity, and pseudo-hermaphrodite.  Personally an actual 'diagnosis' is a  docs best guess given data and subjective information. 

As far as genes go, some may say, some may not.  Its possible to have androgen insensitivity (mild to severe), with or without any tell-tale genetic factors.   Commonly it will show up but not always.  Klinefelter is the classical XXY, however I have seen xxy that didn't exhibit as klinefelter too.

Genetics is in its infancy, and new discoveries are being made every day.   

Quote from: Doreen on January 12, 2018, 09:09:10 PM
Welcome to the intersexed with no name club.  I've been given a couple myself, but primarily I have no internal male plumbing on all my tests.   My 3 leading diagnosis are gonadal dysgenesis with mullerian structures intact, partial androgen insensitivity, and pseudo-hermaphrodite.  Personally an actual 'diagnosis' is a  docs best guess given data and subjective information. 

As far as genes go, some may say, some may not.  Its possible to have androgen insensitivity (mild to severe), with or without any tell-tale genetic factors.   Commonly it will show up but not always.  Klinefelter is the classical XXY, however I have seen xxy that didn't exhibit as klinefelter too.

Genetics is in its infancy, and new discoveries are being made every day.

so far my doctor's best guess is xx/xy chimerism right now

I don't really get that to develop female you need either ovaries or testicles that produce estrogen to develop completely into a female. Because it's needed in puberty in my case I have two fully fundtioning ovaries according to 3 different ultrasounds. My karyotype is actually xx/xy



https://en.wikipedia.org/wiki/46,_XX/46,XY

I indetify as male but I was born appearing female. Had it been the other way around they'd be no confusion because men do have x chromosomes. I had results for a y that I shouldn't have. That's where all this started over a year ago.

I am predominantly xx that's the speculation of my doctor. But I still do have a small level of xy genotype as well.

Quote from: HughE on August 16, 2017, 07:38:40 PM
Contrary to popular belief, the thing that causes you to develop as male or female isn't actually X and Y chromosomes, it's whether you develop testicles or not. All the X and Y chromosomes do is determine whether you develop ovaries or testicles, everything from that point onward is determined by hormones. Male development is driven by the action of androgenic hormones produced in the testicles (primarily testosterone and a hormone derived from it called DHT), whereas female development is what happens if those hormones aren't there. If for whatever reason the testicles fail to develop, their hormones aren't produced, and you end up with a person who developed as female instead of male despite having XY chromosomes. That's what Swyer's syndrome is.

If you have an XXY karyotype, it usually doesn't prevent you from developing testicles, but that extra X chromosome messes up their development somehow so they don't grow to full size, and don't produce as much testosterone as would happen in a male fetus whose testicles had developed fully. There's normally still enough so that you develop a penis and look male when you're born, however the low testosterone may mean that your brain doesn't fully masculinise, and if that happens you can end up psychologically gender blended or even female identified. Caroline Cossey is a good example of a person who is, in her case, XXXY, and is transgender.

i'm not sure what's happened in your case, maybe you're XXY but it affected your testicles particularly badly so they produced very little testosterone during your prenatal development, so you came out female-looking. Maybe that's where the talk of Swyer's syndrome is coming from.

I know that some of the intersex people can get a bit touchy about intersex vs transgender, but in reality many transgender people have intersex traits, and many intersex people have nonbinary gender identities.

It's kind of the other way around I was born female looking 100% but I just happen to have a small amount of male dna as well. What is the problem with this is I've always had a sense that I was male much more than female

Quote from: dmj23 on January 18, 2018, 08:21:09 PM
I don't really get that to develop female you need either ovaries or testicles that produce estrogen to develop completely into a female. Because it's needed in puberty in my case I have two fully fundtioning ovaries according to 3 different ultrasounds. My karyotype is actually xx/xy



https://en.wikipedia.org/wiki/46,_XX/46,XY

I indetify as male but I was born appearing female. Had it been the other way around they'd be no confusion because men do have x chromosomes. I had results for a y that I shouldn't have. That's where all this started over a year ago.



I am predominantly xx that's the speculation of my doctor. But I still do have a small level of xy genotype as well.
It's kind of the other way around I was born female looking 100% but I just happen to have a small amount of male dna as well. What is the problem with this is I've always had a sense that I was male much more than female

I have an X with heterozygosity on both ends... and a barr body inbetween (Meaning most of one of the X's was deleted but 2 x's).  I also have a Y... missing half of its protein markers (or mutations/unable to be red).. this came from my 23andme report.  What I take this to mean is I Have XX and a very defective Y. Yet I exhibit none of the classical s/s of Klinefelters.   I also noted most of the AR receptors on the X were missing too. (Granted they only take portions, but the portions were very few... 4 total).  So most likely as my docs surmise a form of androgen insensitivity.   Whats even more odd is even with CAIS or PAIS you produce testosterone... I have none.   I have perimenopausal natural estrogen levels & progesterone is WNL's for a female my age.  I still take estrogen & progesterone per recommendation by my endocrinologist who stated I have mullerian structures intact (uterus lining is protected from endometriosis when you are on HRT with progesterone combo).

I get to see her (the endo) again in 3 weeks ... and then the geneticist for the first time in April... Incredibly ridiculously long wait list to see him, so all the diagnosing so far has been done by radiologist and my endocrinologist.  While they ARE professionals, yes... and did have access to some of my genetic information as well as my scans, they still don't have access to the full chromosome analysis.  Its all very frustrating and should've been researched decades ago.


rs731478   X   155229100   CG
rs3093467   X   155229189   CT
rs3093470   X   155229483   CT
rs3093474   X   155229842   CC
rs1973880   X   155230350   CT
i6033894   X   155232600   CC
rs3093493   X   155232838   AC
rs2037999   X   155233098   CT

a (very) small snippet of the end of one x chromosome.  Note it has ((2)) protein markers.  Doesn't happen when you only have one X from what I understand.  Maybe I'm wrong.

And here is what most of the Y looks like (lol)

rs13304875   Y   2978552   --
rs35257590   Y   2980200   --
rs2349620   Y   2987520   --
rs2534378   Y   2991977   --
rs2534388   Y   2993783   --
rs2020128   Y   2994033   --
rs2534395   Y   2995103   --
rs2534415   Y   2999020   --
rs2534442   Y   3004873   --
rs2534492   Y   3017407   --
rs3095194   Y   3026733   --

the worst thing is I have daily lower abdomen cramps for the last freakin 3 months that has nothing to do with bowel habits, constipation, diarrhea, urinary system, nothing.... and no known cause for it.  I'm 100% convinced its something to do with my 'unusual' anatomy.   I suspect its the 'fleshy protrubance' id'd on the MRI or uterus on ultrasound... but... other than flexeril, midol, heating pads, and whining too much not much is being done to help the problem.   And its fairly crippling at times, even worse than my chronic headaches. (At least those are definitively id'd with a source).  Welcome to ambiguity. I ask my docs, they just shrug and say they don't know.  Well find out damn it.

yeah my y looks a lot like that on ancestrydna




















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But out of all that I still got 129 calls on my y. I did 23andme and they said I had xx for the majority of the sample tested. But she told me on the phone that there was some y raw data detected but they said they wouldn't show it. Because it was not one uniform genotype.

Quote from: Doreen on January 18, 2018, 08:38:13 PM
I have an X with heterozygosity on both ends... and a barr body inbetween (Meaning most of one of the X's was deleted but 2 x's).  I also have a Y... missing half of its protein markers (or mutations/unable to be red).. this came from my 23andme report.  What I take this to mean is I Have XX and a very defective Y. Yet I exhibit none of the classical s/s of Klinefelters.   I also noted most of the AR receptors on the X were missing too. (Granted they only take portions, but the portions were very few... 4 total).  So most likely as my docs surmise a form of androgen insensitivity.   Whats even more odd is even with CAIS or PAIS you produce testosterone... I have none.   I have perimenopausal natural estrogen levels & progesterone is WNL's for a female my age.  I still take estrogen & progesterone per recommendation by my endocrinologist who stated I have mullerian structures intact (uterus lining is protected from endometriosis when you are on HRT with progesterone combo).

I get to see her (the endo) again in 3 weeks ... and then the geneticist for the first time in April... Incredibly ridiculously long wait list to see him, so all the diagnosing so far has been done by radiologist and my endocrinologist.  While they ARE professionals, yes... and did have access to some of my genetic information as well as my scans, they still don't have access to the full chromosome analysis.  Its all very frustrating and should've been researched decades ago.


rs731478   X   155229100   CG
rs3093467   X   155229189   CT
rs3093470   X   155229483   CT
rs3093474   X   155229842   CC
rs1973880   X   155230350   CT
i6033894   X   155232600   CC
rs3093493   X   155232838   AC
rs2037999   X   155233098   CT

a (very) small snippet of the end of one x chromosome.  Note it has ((2)) protein markers.  Doesn't happen when you only have one X from what I understand.  Maybe I'm wrong.

And here is what most of the Y looks like (lol)

rs13304875   Y   2978552   --
rs35257590   Y   2980200   --
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the worst thing is I have daily lower abdomen cramps for the last freakin 3 months that has nothing to do with bowel habits, constipation, diarrhea, urinary system, nothing.... and no known cause for it.  I'm 100% convinced its something to do with my 'unusual' anatomy.   I suspect its the 'fleshy protrubance' id'd on the MRI or uterus on ultrasound... but... other than flexeril, midol, heating pads, and whining too much not much is being done to help the problem.   And its fairly crippling at times, even worse than my chronic headaches. (At least those are definitively id'd with a source).  Welcome to ambiguity. I ask my docs, they just shrug and say they don't know.  Well find out damn it.