I'm looking for recommendations for an endocrinologist that is clued up on DIO2 mutations. My wife has Hashimotos with extreme hypo symptoms but all her results are normal / very low - we've just had the DNA test which has come back with a mutation in the DIO2 gene.
I've searched the usual places for doctors but no one lists DIO2.
We are based in South England but if the doctor can do a zoom call the location wouldn't be an issue.
Any recommendations would be greatly appreciated.
Thanks!
Written by
mxnero
To view profiles and participate in discussions please or .
Normal is a matter of opinion, nothing to do with fact. And the blood test results you gave four months ago showed an FT3 that is far from normal. It's far too low. A euthyroid (normal) FT3 would be around mid-range. Has she had a thyroid panel done since then? And her past results, do they follow a similar pattern?
I'm not convinced that a DIO2 mutation is going to be of any help in getting a diagnosis. As I understand it, this mutation just indicates the possibility of being a poor converter of T4 to T3. Being a poor converter is not going to impress the medical profession in any way - they don't even understand what it is! And, as she has Hashi's, she's probably going to be a poor converter anyway, most Hashi's people are. So, could very well be that trying to seek out an endo clued up in that area is a bit of a red herring and a waste of time. An endo that actually knows something about thyroid would be a bonus but even that is difficult to find.
Thanks for your reply. I totally agree with you about the results but the 2 endos we have seen so far just agree that she has 'low grade' symptoms of her hashimotos and no treatment is necessary - but they are far from low grade!
She's going in for an ablation to reduce her heavy period symptoms, which I think is a mistake and now desperately trying to scramble and find a doctor that can help before she has this operation.
I have actually found lots of Doctors on the Thyroid UK doctors list that believe in DIO2 and can prescribe combo thearpy - I didn't even know this list existed until an hour ago!
Yes, I agree with you about the op. I had a hysterectomy due to heavy, very painful periods because none of the doctors I saw knew anything about thyroid!
But be aware that even if they believe in DIO2 (what's not to believe?) and can prescribe combo therapy, there's no guarantee that they will with those results.
The hysterectomy was before I was diagnosed, or knew anything about thyroid, although I've probably been hypo since I was about 8 years old. But, yes, obviously it stopped the heavy painful periods! lol But it didn't improve anything else and I then started to put on weight - had been quite reasonably slim up until then. My story is long and complicated, but it's all on my profile if you're interested.
Thanks for clarifying. I checked out your profile - sorry to hear about your story. I can only imagine your frustration. We've only been dealing with this for 10 years and my wife has given up, only because she's so exhausted all the time.
Yes, they are pretty low. And her TSH doesn't reflect that. So, you could also be dealing with a pituitary disfunction. So, what you want is not an endo that knows about DIO2, but an endo that understands pituitaries as well as thyroids.
Well, it is hypothyroid. The TSH is a pituitary hormone that stimulates the thyroid to make more hormone. The thyroid cannot produce hormone without it, so, over time, you become more and more hypo but the TSH never rises. It's what we call Central Hypo. And it could be a problem with the pituitary or the hypothalamus (which stimulates the pituitary to make TSH).
The TSH itself doesn't cause symptoms, that's not its job, so the symptoms you will feel are symptoms of low thyroid hormones. Or, as the pituitary makes a lot of different hormones, other hormones that are low. Has she ever had her cortisol tested? Cortisol is an adrenal hormone. But the adrenals rely on the pituitary hormone ATCH to stimulate them to make cortisol. It's all interwoven.
from her previous test results I can't find anything that would suggest PD. Except for maybe high cortisol and high estrogen - all other markers are normal. such a minefield!
Assuming that cortisol was tested early morning, that's not high, that's good. But, given her low FT3, one might reasonably expect it to be higher, because as the thyroid fails, the adrenals take up the slack by increasing cortisol production. But, of course, as it's at the top of the range, and not over, you won't get any further investigation from the medical fraternity.
But as I said, the problem may lie with the hypothalamus, rather than the pituitary.
Do you have children? Pregnancy and child-birth can do horrible things to the immune system and the endocrine system.
Does Oestradiol have anything to do with the hypothalamus or pituitary? Because that was:
551
ranges here:
Follicular: 114 - 332
Ovulation: 222 - 1959
Luteal: 222 - 854
However, because her periods are so heavy and random it might have been hard to tell where she was at in her cycle - we were going on it being the follicular stage.
Here’s link for how to request Thyroid U.K.list of private Doctors emailed to you, but within the email a link to download list of recommended thyroid specialist endocrinologists
Ideally choose an endocrinologist to see privately initially and who also does NHS consultations so that might eventually transfer to NHS
Content on HealthUnlocked does not replace the relationship between you and doctors or other healthcare professionals nor the advice you receive from them.
Never delay seeking advice or dialling emergency services because of something that you have read on HealthUnlocked.
Dio2 Gene 
DIO2 testing
DIO2 results and T3
DIO2 weight loss 
