'Young' women with DOR - did you test for a cause?

[NoImBridgetJones]

A bit about me... Age 29, ttc1 20 cycles. Diminished ovarian reserve: low but not terrible AMH, elevated but not menopausal FSH, 'poor' AFC. I have too few eggs for my age, but ovaries have not yet failed; I'm actually ovulating regularly. Am expecting a high dose, antagonist cycle, poor response and an earlier than normal menopause. So I currently have premature ovarian insufficiency, a possible precursor to premature ovarian failure though not a certainty.

I've been reading up about the causes of DOR in young women. Chemo and radiation therapy are common causes, there are possibly some viruses (i think the same one that causes glandular fever, which I've had), there are some known genetic causes and some unknown genetic causes, and, of course, plenty of cases where the cause remains unknown.

My question is about the known genetic causes, and whether anyone in a similar situation has requested/been offered/undergone genetic testing before ivf?

Being female and a carrier of Fragile X permutations is a cause of premature ovarian insufficiency. It can be tested via a blood sample. I cant decide whether i should have this test before we go any further.

Ive emailed my clinic to ask how to discuss this with a Dr, and whether they think i should get tested before we embark on ivf.

I'm due to start ivf next month. It'd be emotionally very difficult to delay for testing but I think it would be a responsible thing to do. Or maybe I'm wrong/ worrying needlessly.

Has anyone been in a similar situation?

Thanks

Sorry, by 'Young' I meant people who may have DOR unrelated to their chronological age. DOR is upsetting and unexpected at many ages, i just meant that I'm looking into causes of non-age-related DOR. Please forgive my clumsy wording.

I was told I had this at 34, so older than you. I was never told why or offered tests or anything. I was led to believe it was "just one of those things".

How bad are your fsh and amh?

Don't panic though- it just means you'll run out of time quicker. Your eggs will be good as you're young- it's just a matter of catching one!

On the testing- I think whether i would do it if I were you would be based on whether knowing a possible "cause" will make any difference to any treatment or possible outcome. If no, then I'm not sure there's much point.

Hi chattycat - thanks for posting, I've seen your posts before and do try to remember that it only takes one.

My amh is 9, fsh is 11, afc though is 6 in total (3 on each). I've never seen a positive test.

What would we do if we got tested? If it was negative we'd continue to plough everything we have into trying to have our own genetic child. If I was a carrier then it would depend on my own personal risk of passing on the genes. We could decide to go ahead as planned, with or without further prenatal testing if we were lucky enough to get to 12 weeks, we could attempt preimplantation testing which would reduce no. of rounds we could afford, or we could decide to give up on me having a genetic child and go straight to DE.

As far more I understand it, premature DOR absolutely can be just one of those things and if that's what it is for me I can accept that. But being a carrier of fragile-x is also a cause for some women, and if I am one of those women I could pass it on to a child. Without testing i just dont know. I work with someone who is affected by this and has had children with the full syndrome. She only found out she was a carrier, and is now v close to menopause after she'd had her children. I suppose in my head I'm thinking it would be best to know upfront now, rather than having to decide about prenatal testing and all the risks with that. I can't imagine being in the position of being lucky enough to finally get pg and to then have decisions or questions or worries.

Perhaps it really isn't normal/routine to test for this in women in our position. I've read arguments that fragile-x should be part of routine screening like other things.

I'm not currently living in the UK, although that's where I'm from, and I was wondering if it's just the country I'm in that doesn't offer testing that might be available in eg uk.

I really don't know. No answer from my clinic yet anyway.

I had similar worse diagnosis at 35- so older- I have frequently wondered if it was my glandular fever as a teenager, being a vegetarian or actually taking the pill dianette- I found some research.

It's a horrid diagnosis but I focused on healthy living and egg health and took loads of supplements including the controversial dhea.

I had 2 miscarriages after I started my regime and 3rd one was a charm and I have a beautiful ds. I have not been lucky enough to conceive again and at 43 my periods are gone 😭😭😭😭

Hi andcake - I know what you mean, when I read the stuff about glandular fever I had a horrible, sickening feeling that I'd done this to myself by kissing too many boys just being a normal teenager.

If, in an imaginary world where we could all get answers, it turned out to be that that was the cause then sure, I'd be gutted, devastated and probably be very cross and upset with myself, but, with no further risk to any potential DC, I could plough ahead with ivf and pray and hope that I get lucky too.

The thought that it could be caused by a heritable condition worries me.

Congrats on finally getting your BFP. I hope you're coping ok in this next stage oh and

As an aside, there are other ways of getting glandular fever as I got it before my first kiss!!!

Very true!

I had glandular fever before I'd kissed a boy !

Oops sorry! I was 17 when I had it so assumed in my case it was the kissing that had done it! Though of course i could have got it from anywhere, sharing cups, anything like that.

I'm still waiting to hear from the clinic about the genetic test. We have a consultation on Tuesday to do the other routine blood tests and to pick up my prescription. We'll also be taught how to do the injections.

If I haven't had an answer I'll have to ask the nurse then and see what she says.

Does anyone think it would be worth pushing for, even if they're reluctant?

Do you have any idea what the chances are of having fragile x? Isn't it quite rare?

Ps- waves to and cake- you won't remember me- but your posts gave me a lot of hope 3.5 years ago when I was told I had DOR.

1 in 130-260 women in the UK are carriers, from patient.info

From what i understand, the severity of the premutation symptoms for the carrier and the risk of passing it on to a child vary greatly per carrier. It's to do with the number of repeats on a particular gene. I think 0-50 is no premutation, 50-200 is premutation where 200 is more risky than 51, and >200 is full gene mutation.

So, in my head, I have this 'symptom,' premature ovarian insufficiency/DOR. It's unusual at my age. One of the known causes is a genetic condition that I have a 1 in 130-260 chance of having. It can be tested for easily now with no risk to a potential DC.

I'm not a Dr, a geneticist or anything though, so maybe there's more to it than my idea of logic suggests.

This is all so heartbreaking, overwhelming and bloody difficult to deal with

I'm kind of expecting my clinic to tell me off for googling and not do the test. This is Ireland though and I've heard from friends/colleagues that even standard prenatal testing can be very much resisted here. Would it be different at home in UK?