Finally I KNOW!

[Natnie]

Hi everyone! I'm Natalie. I was, just this morning, diagnosed with AIS. And yet I had suspected as much up to a year ago :pat:

But I finally got my chromosomes tested; my endocrinologist is making me have the same test again just to be safe. That's great except that one test costs $450 Australian! (Yes I am from Australia)

So I'm 20 and a girl so I guess I have Complete AIS. The thing is, an ultrasound I had shows I have a uterus and ovaries, even though they are really small. My endocrinologist seems to think I could be fertile?! I haven't read anywhere that shows that as a possibility for an XY girl. Is it possible? Not that I have too much interest in intercourse though. I am asexual.

It's interesting that in the last 6 months I have been incredibly interested in gender identity and intersex issues, and now it turns out I am one.

Pleased to meet you everyone! I hope to join in many conversations.

[CC]

Hi Natalie

But I finally got my chromosomes tested; my endocrinologist is making me have the same test again just to be safe. That's great except that one test costs $450 Australian! (Yes I am from Australia)

If you live in Australia, Medicare will cover the cost of the Karyotype

C x

[Priestess]

Welcome Natalie,

Life is an adventure, isn't it? Maybe we've all got unusual destinies ahead of us.

I'm afraid you might need to be a bit careful with how you introduce yourself here. Some of the long-time members are quick to judge newcomers as fakes and poseurs, and once they've branded you in their own minds they never let abnormal medical results change their opinions. And the AIS community as a whole has a reputation for being extremely paranoid. For example, when you mentioned small uterus and ovaries, the AIS'ers were probably already saying "impossible", and they've blacklisted and excommunicated medically verified women with AIS for being much less outside their norm.

(I won't bore you with how they treat weird unknown-syndrome birth defects like me) (my avatar says it all, strange how I don't *feel* like a space alien)

[Natnie]

Hi Priestess

I see what you mean. I don't really know why I would pretend to be this! But since my last post I have been doing some research and I think I might mention Swyer Syndrome to my endocrinologist, since to me that seems to more fit my biology.

Either way, I know for a fact I'm XY. It's sad if people would shut me out for being different, when they themselves probably know what that is like! Oh well. I will give others the benefit of the doubt and hope they do the same for me.

CC: Will they? I know I will get a rebate of some kind, I just don't know how much. Thanks :)
Still, it's proving to be an arduous process. I wish I could get my endo appointments closer together than once a month.

Also as an extra "I'm-a-genetic-mutant" tidbit, I was born with 11 toes.

[Priestess]

Well, one of my aunts has 6 toes on each foot :rolleyes2 And on that side of my family there are scattered cases of zero-virilization/sterility. I'm not sure if there is a connection.

It should be easy enough to tell if you have AIS or something else. AIS tends to result in having no signs of even normal female virilization like UA/pubic hair.
And if in doubt, they have a test involving applying a bit of testosterone gel to some part of your skin and seeing if any hairs sprout up.

Your case would be similar to my own, perhaps, except that my uterus etc aren't tiny. And the doctors harmed me greatly by bickering over how "XY" conflicted with what they were seeing, instead of treating me. It took a long time, but I did find a condition that was an exact match for all my symptoms and test results.

[Natnie]

Aha, if that's the case, it is quite clear that I have something other than AIS; I have a small amount of pubic hair.

My endocrinologist obviously hasn't got a lot of experience in this area, but she said so herself and told me she was going to consult with other doctors that know more.

[Wyn]

it is ABSOLUTELY possible to be XY, and have a uterus ...although, they may find the 'ovaries' to actually be testis....just that they were not able to decend. Or, they may be ovo-testis....a combination of ovary and testis. Usually, this is caused by a defect in the ability to produce, or, respond to MIH/MIF - Mullerian Inhibiting Hormone/Mullerian Inhibiting Factor, although, if the gonads are ovo-testis, it is probable that there is just too much 'female' in you to allow you to have permitted the testis portion to have any effect...also caused by AIS.

MIH/MIF is a pro-hormone is produced by the testis as they begin to form, and is critical for the regression and sublimation of the uterus, cervix and 'superior' vagina (internal vagina), and the decent of the testis to the scrotum in an XY fetus. It is interesting to note that MIH is a form of androgen - of which testosterone is just one of the more known forms of androgen. Since your doctor believes you are AIS, it is possible (probable) that you are unable to react to Any form of androgen, thus the retention of the mullerian ducts, and the retention of the gonads inside the abdomen. Combine this with the possiblity (probability) that your X chromosome is simply more 'powerful' than the Y, with the result that you are a full female...just that you have an 'extra' chromosome, that was not effective - at all.

The syndrome we are talking about is called "PMDS" Persistant Mullerian Duct Syndrome, (a well documented syndrome, although, not widely discussed -can you imagine!) However, in your case you also have CAIS - Complete Androgen Insensitivity Syndrome, and as a result, you could not develop a scrotum or penis - the genital area remained/developed as female, thus you are a female in every sense of the word...just that our society cannot accept the concept that you can have a 'Y' - and still be female...they are under the mistaken assumption that because you have a 'Y' chromosome, somehow you are 'male'....at least to their uniformed minds.

I happen to know a fair bit about this issue, as I too was born with a uterus...and one ovary, along with a lower vagina. But, I also had one testis, and a penis - I have PMDS and PAIS - Partial Androgen Insensitivity Syndrome. The doctrines dictate that if an infant has a 'viable' penis, it should be assigned 'male', regardless of the karotype!...so they assigned (mutilated me) as 'male'; (at 6 months old they removed my uterus, stuffed my ovary into my scrotum, and sewed my vagina shut - they then submitted me to approx 2 years of testosterone treatments)....however, like you, my body is more female than male, and about 5 years ago my body re-established the ability to produce estrogen, and has since gone through female puberty....at 46!

I do wish you all the best....you have a wonderful life to look forward to .... motherhood...(and grandmotherhood!) And be grateful that you were born the way you were .... without any 'ambiguity'...this would surely resulted in you being mutilated much as I was - and many others.

Some good links;
http://www.emedicine.com/med/topic1702.htm
http://www.emedicine.com/ped/topic1492.htm
http://www.worldhistory.com/article....rian%20hormone
http://www.hopkinschildrens.org/spec...ersex/sd4.html
http://www.thedoctorsdoctor.com/diseases/pmds.htm
http://radiographics.rsnajnls.org/cgi/content/full/23/2/309

[Priestess]

Wyn,
except she doesn't have CAIS, she mentioned some body hair. Which is as likely to mean that she's simply not producing very much for hormones. And while MIH is a gonadal hormone, it's not an androgen as far as AIS goes, or else all the AIS'ers would have a uterus.

But I would like to pm you on the subject of MIS insensitivity, because I found the connection between MIH and the adrenal problems I've been having.