Monday, December 13, 2010

Shattering my preconceived notions (karyotyping results)

I got the karyotyping results back and they were what I had been praying for since I heard my child's heart had just  stopped- a chromosomal abnormality, Turners syndrome (45 X0).   It does not seem that way, but I actually got lucky. Turners is a genetic condition with wide variation. In the least severe cases,  the child can survive, but have some serious physical issues, including heart defects and sterility.  Chances are, had this loss not occurred, I would have detected it in  the 5 month ultrasound and would have been faced with the agonizing decision whether to terminate or not. I thank god, the universe, whatever, that it did not take me to that place.

I would put this down to really crappy luck, except, though, as an effort to determine the PCOS diagnosis, we finally tested my AMH.  To my absolute amazement, it came back  on the low end, at 1.1 ng/ml. The reference range for the testing lab is 1.23- 8 ng/ml. AMH is touted to be the most accurate predictor of your ovarian reserve. The lower it is, the fewer eggs you have and the closer you are to menopause. My value, while not abysmally low, indicates that my ovarian reserve may not be as good as I thought it to be.

What this has told me- don't have preconceived notions about your own biology. I always thought that I had plenty of good reproductive years left. My grandma gave birth to my dad, her 9th child, at 45.  My cousin conceived her one and only child (a perfectly healthy boy) at the age of 43!  My mom got pregnant every time she wanted to, and produced 3 healthy children. Reproduction is NOT an issue with my family. When I had confessed my plans to that cousin who reproduced  (by accident) at 43, she tore into me for not waiting any longer, because according to her, I could have have done this comfortably even when I was skimming 40, given our history. At that point, I thought I could too. Now I don;t know anything anymore.

We have not yet confirmed that its a failing reserve we are dealing with here.  Overall, my test results can be summed up in one word- confounding. I'm baffled, nothing seems to add up.Adding weight to the PCOS diagnosis,  I have high-ish male hormones (though still within normal reference ranges). PCOS is associated with insulin resistance, with fits with my family history of type 2 diabetes. Because the universe has decreed that nothing should ever add up, I have the opposite,  insulin sensitivity- low insulin, normal sugar in fasting levels. With respect to ovarian reserve too I'm scratching my head.  At the last test around 4 months ago, the other good indicator of ovarian reserve, antral follicle count came back ridiculously high at 34. So we don't have the full picture yet, we need to determine if I have PCOS, or a close-to-failing reserve. Of the two problems, I'd pick PCOS I think, though its choosing between the devil and the deep sea.

Sometimes, things happen that really make you wonder if there is a gran plan to things, even if  a particularly perverse, slightly evil one. The day Turbulence was conceived, something told me it was a girl. After the loss,I've been praying it was a boy because then I thought, for some weird reason it would not hurt so much. It also it takes the guesswork out- if your karyotyping results are a chromosomally normal female, you will always be left a little in doubt, it might have been your cells they examined by mistake. But all in all, I was really anticipating an answer that would definitively give me the gender of my child. I've even been very mildly obsessive about this point.  When I got this result, I started laughing (the alternative was to cry). With an XO genotype, my child was essentially genderless.  Talk about the universe telling you, in a creative, slightly evil way of course, that sometimes, there are no answers.


  1. As you said, there is some amount of blessing in disguise here. I'm glad you're able to feel that way, even if its surrounded with pain. Knowledge is power, so I'm hoping everything gets sorted out sooner rather than later. Sending prayers.

  2. That is strange to have such a low AMH with other things suggestive of PCOS. Could the AMH test have been an error? It sounds as though you have been through a terrible time! I'm so sorry and I hope the next pregnancy brings you a healthy wee babe. Good luck.

  3. Arohanui, thanks for commenting. Yes, I'm going to retest the AMH in another lab, and I'll redo the antral follicle count. Right now I'm waiting for my beta HCG levels to fall to nothing so my next cycle can begin, and then we can run those tests again.

  4. Your AMH level definitely doesn't seem consistant wiht your AFC count. I hope the next round of tests brings your greater clarity.

  5. The world does work in mysterious ways...I hope you're able to get some clearer answers with the coming tests.

  6. Hi Jay, Turner syndrome occurs only in females. Males do not have Turner syndrome. Noonan syndrome is the male version of Turner syndrome. In Turner syndrome, the child is usually cognitively normal.. just short and infertile. Chromosomal conditions is the primary cause of first trimester miscarriages. Have you checked your CD 2 or 3 FSH level?

  7. Babychase, fsh has been checked repeatedly. The cycle where this conception happened fsh was 6.5, estradiol was 33. On day 3, things looked fine. However I was concerned because as ovulation drew closer, based on both fertility monitor and cervical mucus I had far fewer days of peak estrogen than in other cycles.

    I was very worried about this, and thought egg quality might be compromised but when we looked on ultrasound, my lining looked great and everything looked normal so we decided to go ahead with insemination.

  8. Jay, you were right about Turbulance being a girl. XO is only in females.

    I would check your AMH again. Try a different lab this time. With your AFC of over 20, I would expect your AMH to be higher.

    I have family members who had kids in their mid and late 40's too but remember, they can try to conceive every month.. we do not have that luxury.

    Hope you are doing well.. I have my embryos transfer in a few hours..

  9. Babycase---how exciting! Hope this one works out for you, so much.

    I know what you are saying about Turbulence being female, but to me, XX is female. XO is no man's land. It gets classified as female sure, but its not *really* that, its neither here nor there. I'm hoping that since we are also doing microarray with my DNA and comparing it to the baby's, it is possible to find out whether that lone X chromosome came from me or the donor. If it came from the donor (which it most probably did), had everything gone right, Turbulence WOULD have been a girl. If it came from me and the egg ended up with a sperm missing a sex chromosome, well then I really have the world's worst luck, don't I?

    Hope the embryo transfer goes well- good thing you have a shorter 2WW!

  10. A year ago you would have never believed that a result of a chromosomal abnormality would be a relief, would you? And as weird as it is to write it, I'm so relieved to hear this news, too!

    I have a friend from fellowship (she was in the pediatric endocrine fellowship) with Turners - she was lucky in that while she had some of the physical features if you looked, and some social ackwardness, she was otherwise normal. And definitely considered herself female! She actually did a grand rounds on Turner's once, and talked about how thankful she was that she managed to be so mildly affected, when so many others out there are so drastically affected by their chromosomal abnormality.

  11. Hi Jay, I have awarded you a Cherry on Top. If you haven't had one already then check out my latest post :)