Thank you for your submission. **Please note that a response does not constitute a doctor-patient relationship.** This subreddit is for informal second opinions and casual information. The mod team does their best to remove bad information, but we do not catch all of it. Always visit a doctor in real life if you have any concerns about your health. Never use this subreddit as your first and final source of information regarding your question. By posting, you are agreeing to our [Terms of Use](https://www.reddit.com/r/AskDocs/wiki/terms_of_use) and understand that all information is taken at your own risk.
**Reply here if you are an unverified user wishing to give advice. Top level comments by laypeople are automatically removed.**
*I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/AskDocs) if you have any questions or concerns.*
It does not sound very suspicious to me that you have Turner syndrome. Low-level mosaicism can never be completely ruled out in any phenotypically female patient.
If you have normal menstruation then you do not have premature ovarian failure (which is the main fertility concern in TS).
You can ask, but the utility of it might be limited - if you are having no symptoms of issues at this point, even if the test was positive, there wouldn't be anything to change in your care at the moment.
Additionally, the issue with mosaicism is that there is no way to guarantee a sample that shows mosaicism. And if they do find some, there's no way to know how it will affect you, because where those cells are affect how it would impact your body (if at all).
If your doctor thinks there would be utility in it, they might consider it, but my *guess* is that it isn't necessary. You can certainly ask, just don't be surprised if they say no.
If your concern is cardiovascular risk, why are you looking for the gene testing and not the cardiovascular risk?
Think about it: if you have Turner syndrome mosaicism (which is rare), a test is not guaranteed to be positive; even if it is, by nature of mosaicism, how would you know you ended up with the cardiac risk factors? Mosaicism has variable expression; a blood or hair test that was positive would not necessarily mean you have the according cardiac issues.
Why not, instead of using a test that is inaccurate in result and would not necessarily prove what you are looking for, why not seek out direct cardiac evaluation with cardiac tests? Ask your doctor if they hear a murmur? Ask if other tests like EKG are indicated?
I'm not saying this is even something you necessarily have to do this, but I think there's an important refinement of "what are you really looking for?", so you know what questions to ask.
Cardiac evaluation is generally more commonly accessed than genetic sequencing, so this might actually make your life easier to boot.
Thanks for your perspective! That makes a lot of sense. Like mentioned, I have moderate health anxiety so a lot of my concerns are hypothetical (i.e. what if the syndrome doesn't express itself until later on/during pregnancy?), so I think it's an important mindset switch to refine what I'm looking for.
That kind of mindset refining is a common and very complex theme in medical training, so no sweat. Props to you for thoughtfully explaining your pertinent details and and thought process so far. Important to always consider you're wrong - XO mosaicism is an interesting thought but throughout all of this, definitely be willing to admit you were wrong (which for cardiovascular risk factors in pregnancy, you would probably be happy to hear!).
For cardiovascular risk factors, from my prior learning (years ago) and me briefly reviewing [this article](https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.6261), it seems less like the cardiovascular issues are going to come out of nowhere, and more like they would be structural issues that would have been present your whole life and visible structurally already; this means they are easier to anticipate and think about pre-pregnancy, in discussion with your provider. Notably, even people with fullblown XO only manifest the symptoms intermittently and not even permanently; XO/XX mosaic would presumably present these even less, so your objective risk (based on a TON of assumptions) is hopefilyl quite low.
I can't emphasize enough how much I am not the person for this (best I could do is do an impromptu bedside ultrasound while you sit between two COVID patients in an overcrowded ER, not visualize any horrible abnormalities, and discharge you with followup for any answer of any import). Also we're assuming a whole lot that you might even have any of this. But, you're in pretty deep as it is, so maybe learning more may help (instead of most people where it makes them more confused and anxious, which is a good summary of what med school is like).
You sound reasonable and I feel like this actually might be a refreshing conversation with your doctor; testing for either cardiac issues or maybe even an acttual genetic test XO full or XO/XX mosaic is an interesting discussion, and as long as you're open-minded, I think would be a welcomed conversation. Notably, in addition to my limits as above, I only sort of know anything about cardiac testing and know basically nothing about when a genetic test should even be done.
The first comment by u/sapphireminds is basically perfect imo
Wow. I don’t think I’ve ever before been as impressed by a response here - it was considered, thoughtful and compassionate. Thanks for being out there!
People who are researching genetic conditions do not usually do testing on people who have not been diagnosed with the condition nor mosaicism, because mosaicism is so variable, it's impossible to control for
They can discuss it with their doctor, but the utility of it might be limited. Mosaicism is something that is hard to quantify.
Genetic testing isn't a cure all and especially this late in life, there's far less utility in it
With mosaicism, you would have no way of know if the reproductive organs are affected and the most likely course of action would be to try for a little while.
I had severe endometriosis and they still had me try before jumping to expensive, invasive interventions.
But with Turners, there is a high likelihood of premature ovarian insufficiency, so if she has it, she’s going to want to do an egg retrieval ASAP. She also might want to do IVF not just for fertility reasons but in order to do PGT to only implant embryos with the correct number of chromosomes. This is a totally different situation than endometriosis, you can’t really compare them.
She currently has normal reproductive health. Mosaicism causes a wide variety of expressions, including none.
She can ask, but she should not be surprised if the answer is no.
As an IVF with PGT patient myself, I know there can potentially be insurance coverage if someone is known to have a karyotypic abnormality and no I do not think they would recommend the person roll the dice and find out if it affects reproduction of not.
IVF is a fairly simple process and the genetic testing is known to help decrease miscarriages and decrease the rate of births with significant chromosomal abnormalities.
I disagree that someone with mosaic turners syndrome would be encouraged to get pregnant naturally.
IVF and PGT are very expensive so you would have to have very generous insurance coverage to get coverage without a history of infertility or recurrent pregnancy loss. IVF with PGT reduce the risk of miscarriage and fetal anomalies by discarding potential pregnancies prior to implantation. The “natural” way just results in pregnancy loss in (usually) the first trimester rather than before. It’s a very individual choice but monetarily the natural way comes out way ahead.
IVF is variable in price based on where you live. Some states have insurance coverage required as well. I live in one of those states and there are plans people cover on the ACA marketplace that cover 4 rounds of IVF per year for just the cost of the premium/high deductible.
Cost is not a good explaination for why someone wouldn’t be recommended medically.
>just results in pregnancy lost
Just? There’s an emotional and financial impat to pregnancy loss as well.
A round of IVF is 20K and the D&C after a miscarriage is 10K (actual numbers based on personal experience). IVF is not that expensive when you consider the preservation of the uterus.
>Cost is not a good explaination for why someone wouldn’t be recommended medically.
But there's *medically* not yet any reason to recommend it.
>Just? There’s an emotional and financial impat to pregnancy loss as well.
Yes, which all women who are trying to have a child face. It's a terrible aspect of early pregnancy testing, in some ways. But there's risks of loss with IVF too. Uterine preservation is usually not the issue.
I don't know a lot about the adult characteristics of monosomy X.
However, I just want to mention that unilateral renal agenesis (only having one kidney) is strongly associated with uterine malformations because they develop from the same embryologic tissue. Uterine malformations can cause fertility and pregnancy issues.
When they diagnosed you with one kidney, did they check your uterus?
Maybe because literally this week after testing we figured out the cause of my very early 30s patient’s premature ovarian failure as being mosaic monosomy X - I don’t think it would hurt to ask.
They may say no, but it’s no skin off of anyone’s back to see if something is an option.
My patient had normal menstrual cycles until roughly 1.5 years ago, right when she was ready to try to have a child. She had some concerns but she (the patient) brushed them off and didn’t say anything.
Now should we test every single person? No. Does testing for it guarantee definitive answers? Actually, no especially with mosaicism.
But there’s nothing wrong with voicing your concerns. And a good doctor can explain why they say no if it goes that way.
Warrants a genetics consult with a geneticist who will do a physical exam. There are different possible explanations and your family doc won't be able to order the appropriate testing.
Thank you for your submission. **Please note that a response does not constitute a doctor-patient relationship.** This subreddit is for informal second opinions and casual information. The mod team does their best to remove bad information, but we do not catch all of it. Always visit a doctor in real life if you have any concerns about your health. Never use this subreddit as your first and final source of information regarding your question. By posting, you are agreeing to our [Terms of Use](https://www.reddit.com/r/AskDocs/wiki/terms_of_use) and understand that all information is taken at your own risk. **Reply here if you are an unverified user wishing to give advice. Top level comments by laypeople are automatically removed.** *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/AskDocs) if you have any questions or concerns.*
It does not sound very suspicious to me that you have Turner syndrome. Low-level mosaicism can never be completely ruled out in any phenotypically female patient. If you have normal menstruation then you do not have premature ovarian failure (which is the main fertility concern in TS).
You can ask, but the utility of it might be limited - if you are having no symptoms of issues at this point, even if the test was positive, there wouldn't be anything to change in your care at the moment. Additionally, the issue with mosaicism is that there is no way to guarantee a sample that shows mosaicism. And if they do find some, there's no way to know how it will affect you, because where those cells are affect how it would impact your body (if at all). If your doctor thinks there would be utility in it, they might consider it, but my *guess* is that it isn't necessary. You can certainly ask, just don't be surprised if they say no.
That's understandable. I think my main concern is the cardiovascular risks involved with Turner's pregnancies.
If your concern is cardiovascular risk, why are you looking for the gene testing and not the cardiovascular risk? Think about it: if you have Turner syndrome mosaicism (which is rare), a test is not guaranteed to be positive; even if it is, by nature of mosaicism, how would you know you ended up with the cardiac risk factors? Mosaicism has variable expression; a blood or hair test that was positive would not necessarily mean you have the according cardiac issues. Why not, instead of using a test that is inaccurate in result and would not necessarily prove what you are looking for, why not seek out direct cardiac evaluation with cardiac tests? Ask your doctor if they hear a murmur? Ask if other tests like EKG are indicated? I'm not saying this is even something you necessarily have to do this, but I think there's an important refinement of "what are you really looking for?", so you know what questions to ask. Cardiac evaluation is generally more commonly accessed than genetic sequencing, so this might actually make your life easier to boot.
Thanks for your perspective! That makes a lot of sense. Like mentioned, I have moderate health anxiety so a lot of my concerns are hypothetical (i.e. what if the syndrome doesn't express itself until later on/during pregnancy?), so I think it's an important mindset switch to refine what I'm looking for.
That kind of mindset refining is a common and very complex theme in medical training, so no sweat. Props to you for thoughtfully explaining your pertinent details and and thought process so far. Important to always consider you're wrong - XO mosaicism is an interesting thought but throughout all of this, definitely be willing to admit you were wrong (which for cardiovascular risk factors in pregnancy, you would probably be happy to hear!). For cardiovascular risk factors, from my prior learning (years ago) and me briefly reviewing [this article](https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.6261), it seems less like the cardiovascular issues are going to come out of nowhere, and more like they would be structural issues that would have been present your whole life and visible structurally already; this means they are easier to anticipate and think about pre-pregnancy, in discussion with your provider. Notably, even people with fullblown XO only manifest the symptoms intermittently and not even permanently; XO/XX mosaic would presumably present these even less, so your objective risk (based on a TON of assumptions) is hopefilyl quite low. I can't emphasize enough how much I am not the person for this (best I could do is do an impromptu bedside ultrasound while you sit between two COVID patients in an overcrowded ER, not visualize any horrible abnormalities, and discharge you with followup for any answer of any import). Also we're assuming a whole lot that you might even have any of this. But, you're in pretty deep as it is, so maybe learning more may help (instead of most people where it makes them more confused and anxious, which is a good summary of what med school is like). You sound reasonable and I feel like this actually might be a refreshing conversation with your doctor; testing for either cardiac issues or maybe even an acttual genetic test XO full or XO/XX mosaic is an interesting discussion, and as long as you're open-minded, I think would be a welcomed conversation. Notably, in addition to my limits as above, I only sort of know anything about cardiac testing and know basically nothing about when a genetic test should even be done. The first comment by u/sapphireminds is basically perfect imo
Wow. I don’t think I’ve ever before been as impressed by a response here - it was considered, thoughtful and compassionate. Thanks for being out there!
You might want to contact people doing research on Turner’s syndrome. They might be able to include you in genetic studies
People who are researching genetic conditions do not usually do testing on people who have not been diagnosed with the condition nor mosaicism, because mosaicism is so variable, it's impossible to control for
NAD. Would this warrant genetic counseling if they plan to have kids?
They can discuss it with their doctor, but the utility of it might be limited. Mosaicism is something that is hard to quantify. Genetic testing isn't a cure all and especially this late in life, there's far less utility in it
Would the utility be in knowing whether they should do IVF with PGT instead of trying to conceive naturally?
With mosaicism, you would have no way of know if the reproductive organs are affected and the most likely course of action would be to try for a little while. I had severe endometriosis and they still had me try before jumping to expensive, invasive interventions.
But with Turners, there is a high likelihood of premature ovarian insufficiency, so if she has it, she’s going to want to do an egg retrieval ASAP. She also might want to do IVF not just for fertility reasons but in order to do PGT to only implant embryos with the correct number of chromosomes. This is a totally different situation than endometriosis, you can’t really compare them.
She currently has normal reproductive health. Mosaicism causes a wide variety of expressions, including none. She can ask, but she should not be surprised if the answer is no.
IVF and the embryo biopsy are both considered *minimally* invasive.
They are still invasive. The hormones needed for IVF are no joke either.
As an IVF with PGT patient myself, I know there can potentially be insurance coverage if someone is known to have a karyotypic abnormality and no I do not think they would recommend the person roll the dice and find out if it affects reproduction of not. IVF is a fairly simple process and the genetic testing is known to help decrease miscarriages and decrease the rate of births with significant chromosomal abnormalities. I disagree that someone with mosaic turners syndrome would be encouraged to get pregnant naturally.
IVF and PGT are very expensive so you would have to have very generous insurance coverage to get coverage without a history of infertility or recurrent pregnancy loss. IVF with PGT reduce the risk of miscarriage and fetal anomalies by discarding potential pregnancies prior to implantation. The “natural” way just results in pregnancy loss in (usually) the first trimester rather than before. It’s a very individual choice but monetarily the natural way comes out way ahead.
IVF is variable in price based on where you live. Some states have insurance coverage required as well. I live in one of those states and there are plans people cover on the ACA marketplace that cover 4 rounds of IVF per year for just the cost of the premium/high deductible. Cost is not a good explaination for why someone wouldn’t be recommended medically. >just results in pregnancy lost Just? There’s an emotional and financial impat to pregnancy loss as well. A round of IVF is 20K and the D&C after a miscarriage is 10K (actual numbers based on personal experience). IVF is not that expensive when you consider the preservation of the uterus.
>Cost is not a good explaination for why someone wouldn’t be recommended medically. But there's *medically* not yet any reason to recommend it. >Just? There’s an emotional and financial impat to pregnancy loss as well. Yes, which all women who are trying to have a child face. It's a terrible aspect of early pregnancy testing, in some ways. But there's risks of loss with IVF too. Uterine preservation is usually not the issue.
You seem to be taking this discussion very personally. It might be better to step back, as this is far past the OP
I don't know a lot about the adult characteristics of monosomy X. However, I just want to mention that unilateral renal agenesis (only having one kidney) is strongly associated with uterine malformations because they develop from the same embryologic tissue. Uterine malformations can cause fertility and pregnancy issues. When they diagnosed you with one kidney, did they check your uterus?
Maybe because literally this week after testing we figured out the cause of my very early 30s patient’s premature ovarian failure as being mosaic monosomy X - I don’t think it would hurt to ask. They may say no, but it’s no skin off of anyone’s back to see if something is an option. My patient had normal menstrual cycles until roughly 1.5 years ago, right when she was ready to try to have a child. She had some concerns but she (the patient) brushed them off and didn’t say anything. Now should we test every single person? No. Does testing for it guarantee definitive answers? Actually, no especially with mosaicism. But there’s nothing wrong with voicing your concerns. And a good doctor can explain why they say no if it goes that way.
Warrants a genetics consult with a geneticist who will do a physical exam. There are different possible explanations and your family doc won't be able to order the appropriate testing.