#mosacism

[intersex-support]

Hey! I'm a DMAB intersex man who's capable of getting pregnant. I was wondering if you guys know of like a list of potential intersex variations where DMAB people could get pregnant? I've felt very alone about this experience and I think it'd help just knowing there's others like me out there :)

Hi Anon

Thanks for getting in touch, that’s very cool, if you’re comfortable with sharing more details about your experience I’d really like to hear about it and maybe have a discussion with you about that. To begin i will say that i cant give a definitive list of variations that would have people be DMAB where the individuals could get pregnant, because intersex variations do, well Vary, a lot, even within a specific variation there's a lot of potential differences that can occur, some variations are more variable than others, one person with a specific variant might look entirely different to someone else with the same variant.

So what ill do instead is talk about some of the factors involved in pregnancy being possible and what sorts of variations could allow those factors to be present.

For pregnancy to be possible then a uterus need to be present in an individual, now im no expert but as far as i know the uterus would need to be fully formed and fully functional, especially for the pregnancy to be viable, i doubt that a partial uterus could do that, secondly ovaries are pretty important as well to provide the eggs, unless the pregnancy was being induced through IVF from an egg donor, and an ovary or two would also help regulate the hormonal environment necessary for carrying a pregnancy to term.

And ill also just mention that for someone to be Designated Male at Birth then either they were born with a penis, or ambiguous genitalia that the doctor present decided was more like a penis than a vagina, and therefore designated them male, and may have performed surgery to alter the look of the genitalia. in DMAB people who could get pregnant the first set of people would be born with an extra internal set of sex organs that would not have been noticed at birth unless abdominal scans were necessary for some other reason, and for the second set of people they would be born with genitalia that formed a uterus with external genitals that somewhat resemble a penis. Bearing that all in mind there are a few Variations that have the potential for all of these factors to be present, i will admit im not 100% familiar with all of them, my main areas of knowledge are in Persistent Müllerian Duct Syndrome, and Genetic Chimerism and Mosacism,

Persistent Müllerian Duct Syndrome is the term used for when someone is born with a penis and has an internal uterus, ovaries, fallopian tubes and vaginal canal, these can be either all fully formed, partially formed or some of these parts may be present while others aren't, PMDS is odd because in my readings about it ive seen it discussed as a Variation on its own and as a symptom (for lack of a better term) that can be caused by several variations,

Chimerism and Mosacism are similar but they do have some important differences, ill also say that these are conditions (again for lack of a better term) that aren't always intersex variations, there are non intersex people with them, Mosacism occurs when a mutation happens in some of the dividing cells of a fertilised egg, therefore creating a person with two similar yet different sets of DNA throughout their body, if this mutation happens in the sex chromosomes then the person may be intersex, Chimerism is what happens when two (or more) fertalised eggs Fuse together instead of forming non identical twins, if one egg has XY chromosomes and the other XX (or any other sex chromosomes variants really) then the individual will be intersex. Mosaics and Chimeras can manifest in an infinite number of ways and the different DNA sets aren't always evenly distributed, they can be separated to specific locations or body parts, or spread out randomly, most chimera and mosaics develop to be like anybody else really, and may never know that they have multiple DNA sets, sometimes though they can be born with certain differences, like an extra organ or two, for example.

im not as familiar with other variations that could result in a dmab person being able to get pregnant, perhaps some of my fellow mods or our followers might have some insight into other variants (feel free to add if yall do ! ), but really any variant that could allow somone to be born with a uterus and a penis/penis like gentitalia could work here. i hope that this helps !

-Mod A

[intersex-support]

I was wondering if any of the mods could hear me out because I'm truly at my wit's end here. I'm AFAB and in my early 20s and have never had a period. All of my other parts have developed fine (though I think my vagina might be a tad on the small side). I'm currently diagnosed as having PCOS with hyperandrogenism, but I feel like my issues go further than that. For starters, I've been prescribed multiple strong doses of HRT and none of them have caused me to have a period. I also have a very thin lining on my womb (which I've been told doesn't align with PCOS) and a resistance to insulin not caused type 2 diabetes (which makes me believe I actually have NCAH instead since I had an early puberty too). I've also recently had a karyotyping done and the results on the letter I got said I have 46XY, which I know isn't what I should have but to be completely honest I think that's just a mistake, though I'm definitely planning on confronting my doctors about it. I was just wondering if the mods had any idea about what's wrong with me? Being on this treatment and not seeing any results for years now has caused me so much grief and I feel like I can't trust doctors anymore because I've been shamed and violated by them throughout. I'd much rather hear what other intersex people have to say on it, since the only thing I'm certain about is my hyperandrogenism.

So we have to start off by saying we can't diagnose you, but we can give you some ideas about what could be going on. None of us are medical experts, but the mod team does know a fair amount about intersex variations and we worked together for this answer! Intersex diagnosis can be so complicated, and unfortunately our answer might just leave you with some more questions. However, we’re going to try to break it down into possible scenarios that could be your intersex variations. We’re also going to rule out things that it could not be, in hopes that this helps narrow the search. It could be any of these suggestions, or none of them, but hopefully this can help you in your research!

First off, I agree that it is most likely not just PCOS-the things you’ve described seem like there is a lot more going on than that. Oftentimes, PCOS is just the first thing doctors diagnose with and it can be a sign that there is other stuff going on.

Second off, I’m curious if you know for certain if you have ovaries, since you didn’t mention it. I’m assuming that you do, because it sounds like you’ve done a lot of testing and have been through a lot of treatment, but let me know if you don’t have ovaries, because that would change some of the things I described.

Third off, in my experience with karyotype, it's not common for it to be wrong, but you're not wrong to seek a second opinion.  So with that in mind, I’m going to walk you through what the possibilities are if it is accurate and you do have 46 XY. It could potentially be Swyer Syndrome (also known as XY gonadal dysgenesis). Swyer syndrome is when you have 46 XY and a vagina, uterus, and oftentimes an enlarged clitoris, but no ovaries. People with Swyer Syndrome also do not have a period without HRT. However, the thing that does seem to make that a little unlikely is that usually, people who go on HRT with Swyer syndrome get a period. With Swyer Syndrome, you also don’t go through puberty without HRT, so if you had puberty before HRT, that might be another sign that it’s not Swyer syndrome. Also, the fact that you’ve said you have hyperandrogenism also makes me pause-as far as I can tell, hyperandrogenism is not associated with Swyer Syndrome at all.  Still, it could be a possibility, although I’m not sure it’s a very likely one.

There’s also a chance it could be Androgen Insensitivy syndrome, but I’ve gotten conflicting information about whether or not you can have a womb and AIS-some sources say that you can, some say that you can’t. So that’s something defintely worth asking a doctor about. But with AIS, you have 46XY, can have a uterus and a vagina with PAIS, but never start your period. Also, although it seems counterintuitive, hyperandrogenism is actually something associated with AIS, because your testosterone levels will be in the “normal” range for “male” people and diagnoses of hyperandrogenism is made by comparing it to the “female” levels. People with AIS generally have a clitoris and vagina, although it can be more shallow sometimes. If you had AIS, you would also have internal testes that could be found through an ultrasound, if I’m not mistaken. I’m really unsure about whether or not you can have a womb with AIS though-most of the sources said you can’t, but two sources said you could. So that’s something you defintely need an expert’s opinon on. 

We can also rule out 5-alpha reductase deficency, another 46XY variation, because you have a uterus and a womb. I’m assuming you would have mentioned if you didn’t have a uterus, but let me know if I’m assuming wrong!

Here’s what I think might actually be likely: 46 XX/ 46 XY chimerism. This is a really rare intersex variation, so statistically it is not likely, but because of what you’ve described, I think it actually is a possibility for you. With 46 XX/ 46 XY, you essentially have both XX and XY cells in your body. So this doesn’t always show up on karotype tests, because the way the random distribution of cells work, they might just test some of the XX cells or some of the XY cells. Chimerism has such a wide range of physical presentation that it can look like almost anything. It can look like having “typical” AFAB presentation with vagina, uterus, and womb, but maybe with factors such as a shallow vagina or a larger clitoris. This could also be a cause of hyperandrogenism. This could also explain why you don’t have periods. If you were interested in persuing diagnosis of this, you would likely have to get more karotyping done with a wider sampling of cells. 

Another option I think might be possible is mixed gonadal dygensis, which is also known as 45,X/46,XY mosaicism. This is also another statistically rare one, so doctors tend not to like to test for it, but I still think it could be a possibility for you. It’s similiar to 46 XX/ 46 XY chimerism in that you have two different types of cells, but it’s different in the way it’s formed and it’s due to losing the Y chromosome in some cells. Also like chimerism, it has a wide range of physical presentation-you can have a womb, vagina, uterus, but also could have mixed gonadal tissue and have both ovarian tissue and testicular tissue, which would be a reason that you wouldn’t have periods. Virilization/hyperandrogenism is also associated with this in AFAB people, which would explain that. 

None of the variations I’ve listed are specifically associated with insulin resistance, but hyperandrognism is associated with it and hormones are honestly so weird with intersex people, so there could defintely be a connection there. 

Now I’m going to talk about what the options would be if you didn’t have 46 XY. 

You’re absolutely right that NCAH could be a possibility that explains hyperandrogenism and insulin resistance. I’d actually lean more towards full CAH because completely absent periods are more prevalent in CAH than in NCAH. So if you don’t have 46XY, I’d say it is really likely that you could have CAH. 

However, CAH cannot be comorbid with 46XY if you have a uterus. There is a type of CAH called lipoid CAH that does present in people with XY, but if that is the case, you would not have a uterus, and the inner vagina would be absent so what you would have for a vagina would be extremely shallow. So having CAH and 46XY would all depend on whether or not you have a uterus.

I don’t think it’s likely to be other intersex variations like Klinefelters, Turner’s, or MRKH, becuase you don’t have the physical characteristics of those or the karotype. 

So honestly, if your karotype was incorrect, the two most likely options are going to be CAH or PCOS, and I would lean towards CAH. If your karotype was correct, I’d think that chimerism or mosaicism might actually be the most likely options, but that would require further karotyping

That was a lot of information, so please feel free to come back and ask any more questions, or just if you need support and want to vent. This whol process can be so confusing, and I’m really sorry that you’ve been shamed and violated by your doctors. You deserved better, and you always have a right to be respected and support in the diagnosis and treatment process. I’ve been there and I really feel for you, and I want you to know that you’re not alone in this, even if that doesn’t help solve everything. You desreve to find answers about your own body, and I know how hard and stressful it can be what you just don’t know what’s going on.There’s a lot of intersex people who get it and who are here to support you through this, and you are welcome in the intersex community. (If you want to come off anon, I’m happy to give you a link to an intersex discord server I’m in-it’s a really supportive place and you’d be welcome there.) 

Please feel free to ask as many questions as you need, or just to vent! We are here for you and we really hope that you’re able to find some answers 💜💜💜 

-Mod E