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How DO you find out your sex chromosomes?
February 27, 2013 8:51 PM   Subscribe

Is there a test adults can get to tell them what their sex chromosomes are, e.g. to know if they're an XX despite having male genitalia, or if they're XXY women, or any other non-binary possibility?

I appear to be unambiguously female, but I have had several reasons to wonder if, biologically, I might have something somewhat different going on:

- I have had dark, coarse facial hair since puberty. I've had to get electrolysis for this. I don't have PCOS.

- I had pubic hair for as long as I can remember, as early as four years old at least. And I don't mean just a little. When I was learning about puberty at school I was surprised to hear that people don't have pubic hair before then. To my knowledge I wasn't diagnosed with anything, though I'm not sure my parents would have said. My mom is the type that might be weird about those things.

- There's a slight extra... inch-long tentacle-y bit inside my vagina, which otherwise appears pretty normal. I've gone to a gynecologist about it and she said sometimes stuff like that happens and it's nothing to worry about, and I'm not self conscious about it. But it has made me wonder.

- This is difficult to explain because it's not binary, but you'll see why I might wonder if I have an underlying biological reason to feel so perfectly in the middle: as a child I felt more like a boy, but not to the extent that a trans man would have felt, and it didn't feel wrong to be a girl. If I had to pick a gender, I might have picked male, but I don't particularly care either way, and not in a "I'm above this or think it's stupid way," but in a "I feel both describe me fine" way. I have two trans women friends and I definitely did not have the kind of gender dysphoria they experienced as children. Today, if some people called me he and some people called me she I wouldn't care either way and could identify as either psychologically.

- I wonder if my mom found out something when I was a kid -- how do you not find a reason why your kid has pubic hair? -- and wouldn't tell me, because of some stuff she's done/said. She would not get me boys' toys or clothes even though I asked for them in addition to girl stuff, and when I was adult she said it was because she didn't want me to be a lesbian. Even though I have been married for ten years, she worried a few years ago that I might be a lesbian, despite the fact I'm SO happy in my marriage (my husband is the best person in the world) or anything like that and have never touched a woman. I am bisexual and can't tell her this because she's crazy. She's not religious or even homophobic (well, not entirely, I guess this counts some) but it strikes me more as she REALLY thought that I was destined to go that way for some reason.

For that same reason I can't ask her if she found out I had some chromosomal abnormality as a kid either because she'd just lie anyway. I could definitely see her finding out and deciding it would be better for me not to know, because she's like that and thinks everyone else is as dramatic as she is. Asking her is just off the table, especially when presumably the answer is my blood and I try to limit contact with her.

- I have extremely low cortisol but good DHEA levels, and reading about some of these sex chromosome permutations, some of them are said to interfere with cortisol production.

It is mainly the last issue now that makes me want to get tested, because curiosity alone wasn't enough before; the cortisol issue is really fucking with my life, I haven't had any luck resolving it (diets and medical stuff both), and I'm beginning to wonder if it's because the medical people are just assuming I'm an XX female. All I've been told is something is very clearly not working with my adrenal glands, and has not been working since I was a child.

When I've done bloodwork for various tests, would sex chromosomes even be something they'd notice automatically, or think to check? I'm guessing they just check for whatever hormones or thing the particular test was looking for, right? It seems like if I were intersex in some way, that would explain a lot and at least get me the appropriate help for this. It also seems like if I were intersex and didn't know, I could be in the position I am now where everyone just doesn't seem to know why my hormones are so weird and why things aren't working.

So IS there a test I can take that'll spell out my sex chromosomes? It's totally possible I have another hormonal disorder, but I'd like to narrow things down more. How do I get it? How much does it cost? etc etc...
posted by anonymous to Health & Fitness (17 answers total) 3 users marked this as a favorite
 
I think 23andme.com will check this, but I'm not 100% sure.
posted by empath at 8:56 PM on February 27, 2013


If you have not encountered it already, the term you are looking for is "genetic counseling."
posted by Nomyte at 9:10 PM on February 27, 2013


You're looking for a karyotype test. It's quick, easy and covered by insurance.
posted by halogen at 9:11 PM on February 27, 2013 [6 favorites]


Karyotypes are used to diagnose chromosomal abnormalities. I don't know how you have one done, but there's a search term for you.
posted by i_am_a_fiesta at 9:11 PM on February 27, 2013


There's a slight extra... inch-long tentacle-y bit inside my vagina, which otherwise appears pretty normal. I've gone to a gynecologist about it and she said sometimes stuff like that happens

Since the essentials of your question are answered, I'll ask--did your doctor suggest this might just be a subseptate hymen or the remnant of a torn septate hymen? Stuff like that really is pretty common, whatever other issues may be present.
posted by Monsieur Caution at 9:13 PM on February 27, 2013 [1 favorite]


Yes, you're looking for a karyotype. You can get your doctor to order it. I had one done when I was found to be sterile and found out I was XY/XXY Klinefelter's mosaic.
posted by kalessin at 9:30 PM on February 27, 2013


23andme does not seem to do anything useful along those lines, although since it won't give me paternal-line ancestry info it may be just avoiding the main issue. I'd go through your doctor.
posted by restless_nomad at 9:35 PM on February 27, 2013


23andme will give you the information indirectly, as you will have a 'no call' for all Y chromosome data in the raw data browser. But if you find a good provider who will work with you, she or he can probably arrange a karyotype even covered by insurance under some reason or another.
posted by cobaltnine at 9:45 PM on February 27, 2013


when I was adult she said it was because she didn't want me to be a lesbian

My parents did things like this all the time when I was growing up (up to and including not allowing me to go to Lilith Fair as a teenager), despite the fact that I am cisgendered, was a girlie girl, and am biologically 100% female whatever the hell that even means.

My dad was so sure I was a lesbian that it completely threw him when I brought home a boyfriend freshman year of college.

Parents are weird.

Though if you are truly concerned about it, yeah, ask your doctor for the proper tests. Why not?
posted by Sara C. at 9:48 PM on February 27, 2013 [2 favorites]


Yes, your ordinary GP should be able to order this test. It can't be too expensive, because I had it done when I was not covered by the national Australian insurance, and together with about 10 other tests for genetic issues I paid less than $300 total. (I had these done as a preliminary screening when I was thinking about donating eggs to an infertile friend).
posted by lollusc at 10:31 PM on February 27, 2013


I think rather than have karyotyping or other chromosomal testing done on your own, you should see an endocrinologist, preferably one who specializes in sex hormones (usually called a reproductive endocrinologist although they do treat people who aren't addressing their fertility). That way you can address all the possible causes at once - and a good endocrinologist will consider the possibility of chromosomal anomalies in the diagnostic process.
posted by gingerest at 11:09 PM on February 27, 2013 [12 favorites]


The low cortisol makes me wonder if you have ever been investigated for congenital adrenal hyperplasia. It's not a chromosomal disorder but it's a genetic issue that means its hard for the adrenals to produce enough cortisol and results in overproduction of male sex hormones as a side effect. It can cause early pubic hair and male facial hair patterns in women. It can also cause water and salt loss and dehydration, but doesn't always, especially in milder cases.


If you haven't already you should consider seeing an endocrinologist. The best initial test for it would be a 17-hydroxyprogesterone (different from just progesterone).
posted by *becca* at 1:02 AM on February 28, 2013 [5 favorites]


I did 23andMe, and they basically said (paraphrasing): "We could not find your paternal ancestry because you do not have a Y chromosome."
posted by raztaj at 4:01 AM on February 28, 2013


Have you mentioned this to your endocrinologist at all? (It sounds like you have one.) I don't recommend just getting the karyotype because there are loads of things that wouldn't show up on the karyotype. Just ask! Get a rec.

Also I wouldn't recommend the 23andMe route, because I'm going to guess (based on my understanding of what they do and the techniques they use - I don't know really) that it would be less likely to pick up things like chromosomal translocations (like, if you didn't have a whole Y chromosome, but you had a little part of a Y stuck to one of your Xs), unless the parts being translocated included the parts that have the genes they're looking for, which they might not.
posted by mskyle at 5:06 AM on February 28, 2013


23andme will give you the information indirectly, as you will have a 'no call' for all Y chromosome data

I did 23andMe, and they basically said (paraphrasing): "We could not find your paternal ancestry because you do not have a Y chromosome."

That only tells you if you have (at least one) Y chromosome or not; it would not fully answer the OP's question. It would not distinguish between XO/XX/XXX, nor between XY/XXY/XYY/XXYY etc.
posted by DevilsAdvocate at 6:48 AM on February 28, 2013


Although I love 23andMe, I am a little suspicious of how their analysis would fare on someone who is XXX or XXY or some other atypical combination. It's possible that they are assuming either XX or XY and performing their analysis with that in mind. I don't know if that's the case (I don't know anyone who isn't XX or XY who has sent in a sample) but you might want to verify through a more reliable test.

Though if you find out you are XXY or XO or something else, it'd be really interesting to send a sample in to 23andMe without saying anything off the bat, just to see what they show as a result.
posted by Kadin2048 at 12:46 PM on February 28, 2013


There's a slight extra... inch-long tentacle-y bit inside my vagina, which otherwise appears pretty normal. I've gone to a gynecologist about it and she said sometimes stuff like that happens

Since the essentials of your question are answered, I'll ask--did your doctor suggest this might just be a subseptate hymen or the remnant of a torn septate hymen? Stuff like that really is pretty common, whatever other issues may be present.


Yeah I have this. It's the remnant of a septate hymen from looking at the pictures. For a long time I was kind of freaked out about the tentacle thing until I learned about all the different types of hymens...it's really, really common.
posted by MaryDellamorte at 7:11 PM on March 2, 2013


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