2 replies to this topic

[yogini]

Hi everyone, 

 

So I have DOR, and my mom had POF. Yesterday, I got to reading on Fragile X syndrome pre-mutation, and am starting to think I should probably be tested for this.

 

It's a genetic condition which, if you have the full mutation, can cause issues like intellectual disability, sometimes severe, especially in boys. If you only have the pre-mutation, it's usually asymptomatic other than POF. From my reading (reliable source), it seems that 12-14 % of women w POF who also have a relative with POF are affected by this pre-mutation. 

 

The reason this is relevant, other than explaining DOR/POF, is that with a pre-mutation, if I get pregnant with my own eggs, I would have an increased chance of having a child with the full mutation, aka intellectual disability. Knowing this would push me to go for donor eggs right away instead of trying one last time with my own.

 

Just wondering - any of you get tested for this? thoughts?

[jtstan]

Hi Yogini,

 

I did get tested for this when I first got the DOR diagnosis at 34 and I was negative for it although I do have a family history of POF.  My grandma had 7 kids before the availability of BCPs which she went on at 33 and off at 39 and never had another period so it was assumed she went through early menopause.  Of the 3 girls she had my one aunt went through menopause in her early 40s but my other aunt and my own mother entered it in mid fifties, so looks like the bum gene was passed down to me but unrelated to fragile X.  Would have been nice to know all this family history before I started TTC...I would have made a point in starting earlier!  I think its totally reasonable to ask to be tested for this, especially if it would help in such important decision making.

[pandora89]

I have DOR and got tested for Fragile X at 26, it came back negative for me. I also have no one in my family with fertility problems.