D102 polymorphism

[Shredder]

Hi has anyone had the test for the D102 polymorphism please as I have been told that the NHS don't do it and I am positive I have problems converting thyroxine? I was also wondering if the test is expensive and can it be used to convince a halth authority to prescribe T3 or NDT?

[helvella Administrator Thyroid UK]

For clarity, the gene that affects T4 to T3 conversion is called DIO2 - that is, three letters and a number. Not D102 - a letter and three numbers. Not DI02 - two letters and two numbers.

The name comes from the enzyme that this gene affects which is a deiodinase. It removes an iodine atom from a thyroid hormone molecule - it deiodinates it.

On this forum we probably understand, but if you wish to look it up anywhere, it might help to get it right. If you are discussing with a doctor, and get it wrong, you are providing an excuse for them to dismiss what you say.

(More strictly, two single-nucleotide polymorphisms (SNPs) on the DIO2 gene, rs225014 and rs225015.)

academic.oup.com/jcem/artic...

The Wiki article provides a basic introduction as to what a single-nucleotide polymorphism (SNP) is and why it can be important:

en.wikipedia.org/wiki/Singl...

[Shredder in reply to helvella]

Ooops thanks for the correction

[vocalEK in reply to helvella]

Would you pronounce that DIE-oh-two?

[helvella Administrator Thyroid UK in reply to vocalEK]

No - I would just say the letters/number in sequence as dee-eye-oh-two.

[DippyDame]

How do you know you are positive if you haven't had the test!

I tested Dio2/homozygous

A positive result can sometimes gain a prescription for T3 ....not all medics are equal in their view of this test.

Poor conversion can be indicated by a high FT4 combined with a low FT3

This might help

thyroiduk.org/getting-a-dia...

[helvella Administrator Thyroid UK in reply to DippyDame]

I don't think the word "positive"was meant with respect to the test itself - rather "I am certain/quite sure/convinced"!

[DippyDame in reply to helvella]

That was a mistake, thanks helvella.

I need a cataract op (but when!) which isn't helping!

[helvella Administrator Thyroid UK in reply to DippyDame]

We all make mistakes. And some of mine are far more significant.

[Shredder in reply to DippyDame]

Thanks for the reply. I don't know if I am positive but feel rubbish on Levo even on large quantities but was great on Armour thyroid.

[DippyDame in reply to Shredder]

Sounds as if you do need T3

Good luck

[Sweeneythyca]

Hi, i had an ancestry dna test ages ago and uploaded my results onto some free sites (can't remember names now but if interested dm me and i will look) i found i have genetic variants (snps) that make lots of sense... also have the thyroxin binding globulin thingy (think its DI02) so apparently a poor converter.

[McPammy]

I had the DIO2 gene test. Mine came back positive. I was in a mess on Levothyroxine alone.

You do it through Regenerus Laboratories. I paid about £165 for the test and for a qualified person to interpret the result over the phone. It took 3 weeks from sending it off to receiving the result. I printed copies off for my GP, NHS Endo and private only Endocrinologist. I was prescribed T3 medication and my life has transformed.

Go do it today. Don’t delay.

[Shredder in reply to McPammy]

Thank you so much for taking the time to reply.

[NWA6]

Mine was heterozygous. Personally the test was worth it to me because after 10yrs of being gaslighted by medical professionals it gave me the courage that it’s not all in my mind. The test showed that there could be a potential legitimate reason for not doing well on Levo alone.

But I’m being honest I have to tell you that the result did not do me any favours. It did not catapult my plight into a path of recovery.

No one was interested, not my Gp, NHS Endo or private Endo. My NHS Endo tried to pass me on to a geneticist but the return letter said ‘this is a polymorphism’ in other words ‘not interested in this Mickey Mouse stuff’

What did help me finally get T3 was a consistent history of full thyroid results. Over the span of 5yrs my tests showed that my T3 never rose above 0% through range and at times fell below range if my FT4 was low in range.

So the DIO2 test was good for MY mental well being but my advice would be that the history of results is the way to go.

[FancyPants54 in reply to NWA6]

I've given my GP several updated copies of my thyroid test results history. He's completely uninterested in it and gives it no more than a cursory glance. I feel I have to try though, to keep him in the loop.

[NWA6 in reply to FancyPants54]

My GP did not show any interest or understanding in my FT3/4 history. Neither did the NHS Endo. It was only the private Endo who I had forwarded my results to ahead of my appointment who immediately saw that the problem was indeed conversion.

[FancyPants54 in reply to NWA6]

Many of these knowledgeable older endocrinologists who are now private spent their working lives teaching new doctors. What's happened to their knowledge? It seems to have been ignored or forgotten.

[vocalEK in reply to FancyPants54]

I believe that when handing a doctor your results, you need to hang on to the piece of paper with one hand, point and say, "Look here! My Free T3 level is consistently below the range. How about we fix that?"

[FancyPants54 in reply to vocalEK]

Except that my FT3 is not below the range. It has, for a long time, been either just under or just over 4. Until recently when it’s been a mere 7% into the range and 14% into the range. Then it went back to its more normal 3-4 range. I’ve had it as high as 46% through range and as low as 7%. It does not correspond with FT4, which behaves as expected when on Levo. TSH doesn’t go very high but doesn’t drop below 2.5 on a good day.

The GP has no understanding of that and won’t do anything because my results are all in range.

I’ve found a private endo who is much better so I’m hoping I can get sorted with him. He understands my Dio2 test results and my need for T3.

[vocalEK in reply to FancyPants54]

I surely hope it works out for you. It has made a big difference for me.

[SlowDragon Administrator]

Yes, like NWA6 and McPammy I found it enormously helpful to do the test - I am positive (heterozygous)

It did (possibly) help in my successful application for T3 on NHS too. More on my profile

[Chunipet]

Like others I have had only positive outcomes from having the DIO2 test. My gp forwarded my result to the endo at the local hospital, along with several blood test results showing poor conversion. I was prescribed T3 and it’s made all the difference to the way I feel.

[Celestialbeing]

I am in the USA. I did not get the DIO2 (or DIO1) test but I know I need desiccated thyroid hormone. My FT4 was high normal and FT3 was barely in range. I had reactions to synthetic T3. Desiccated T4/T3 is what works for me. I do not think insurance pays for the test here. If anyone has info, much appreciated.

[Smash49]

Hi there. Funnily enough I saw an NHS endocrinologist last Thursday as I had the DIO2 test and am heterozygous positive. My T3 is always very low and my T4 normal at top of range and I have severe fatigue etc. I am hoping to get a trial of T3 on the NHS. I was shocked that my GP referred me to be honest. Anyway at first the endo was extremely dismissive saying no one should be referred for an underactive Thyroid and that the gene test and blood tests I had done myself would be untrustworthy as they had not been done via a lab that the NHS uses. I pointed out yo him that this gene test is not available via NHS and that if your TSH and free T4 is normal then a GP in our area cannot request a T3 test so I had to do it privately. I also said to him that if he didn't feel comfortable taking this further or wasn't used to treating with T3 then could he refer me on to someone who is known to treat with T3 on NHS. He said he would do but then I think I touched a nerve with him because if he was to refer me on then he would know that I would tell the next endo about him not wanting/feeling able to treat me. I think he thought that would make him look inferior to another endo so he begrudgingly said he would get blood tests done on NHS for T3 and some other autoimmune illnesses and he would discuss my case with his colleagues and get back to me. Result! I think you should get the test done as like others have said you will feel exonerated from that feeling that others think your being lazy, soft etc. Which of course you are not. I think if you get to see an endo the main thing is be prepared, know what your going to say, be confident but not aggressive. As an aside, I mentioned how good I thought Thyroid UK were in giving support to people like me. He said he thought they were a group of scaremongers who just want everyone to take T3. I put him straight about that too 😊. Bet he will say I can't have the T3 but he will have to refer me on to another NHS endo and I will request one from Thyroid UKs list so there's still hope. Good luck to you in your journey

[TSH110 in reply to Smash49]

Good for you telling that silly Endo straight what barriers are put in our way to actually find out why we still feel ill on that wretched Levothyroxine. You’d think he might see you as a chance to actually get some knowledge about treating with T3 esp as you are more clued up than him and could gently guide him to success! How else will he improve his knowledge and practice and become an effective endocrinologist if he remains afraid of his own shadow and can’t actually think for himself?

[Smash49 in reply to TSH110]

My thoughts exactly 👍😊

[Shredder in reply to Smash49]

Thank you

[McPammy in reply to Smash49]

Well said. All of it. I hope you do get your T3 trial. I had similar experiences too. My NHS Endo was dismissive about my positive DIO2 gene test result. My GP was very helpful. And even more helpful was my private only Endocrinologist. I now get my T3 medication off the NHS after the dismissive NHS Endo was reprimanded by his superior.

[FancyPants54]

I have had it done because I just couldn't understand why my thyroid blood tests (done privately for a few years to ensure I get FT3 FT4 and TSH every time, and logged in a spreadsheet, were so variable and pretty much always with a low in range FT3 and FT4 all over the place. Mine came back positive for inheriting the problem from 1 parent, not 2. It helped me to know I wasn't crazy or just not trying hard enough (when I have tried very hard and very methodically to improve things). My GP looked at the result and handed it back saying "I'm sorry I don't understand that". And then followed up with saying because my blood tests are in range he can do no more than provide the Levo. My FT3 is always in range, but just stuck at the low end and if I push my FT4 up high the T3 drops. My TSH does it's own thing. Even the neatly prepared sheet of results, spaced out well and with percentage through reference range provided, didn't interest him. He said because he'd sent me to an endo (25 years old perhaps? and clueless) and he'd said there was nothing wrong then there was nothing further he could do.

So I have found a private endo who took one look at the test result, after having tried a few different things with me over the previous months that hadn't helped, and said "OK, so now we know you need some T3" and gave me a private prescription and a dosing schedule. I'm yet to start it for various reasons, but it's where I'm going next, and I know I need it because I have that test result to back me up.

[TSH110 in reply to FancyPants54]

Whatever happened to second opinions? You’d think abnormal results would always warrant further investigation - odd how it does not count if it’s thyroid hormones 🙄

[TSH110]

I did 23&me some years back and that chip had DIO2 on it but the later ones didn’t. That’s how I found out I had a conversion problem. If by any chance you did 23&me before they stopped including that info, you could find it in the raw data. Otherwise it’s about £165 quid 😞 for a specific DIO2 test.

[helvella Administrator Thyroid UK]

It is somewhat disingenuous for a clinician to state that the NHS do not do DIO2 (etc.) testing.

They might not wish to offer DIO2 testing for individuals specifically for application in thyroid disorders. But the NHS is doing Whole Genome Sequencing for some patients.

Clearly, it is still early days. And any request might well be refused.

Requesting whole genome sequencing: information for clinicians

Key details and guidance on the new ‘patient choice’ model of consent for genomic testing

NHS England is implementing the NHS Genomic Medicine Service (GMS), to provide consistent access to high-quality and cutting-edge genomic testing across the NHS in England. Available tests will be outlined in the National Genomic Test Directory, including whole genome sequencing (WGS) for certain rare disease indications and cancers, commissioned by NHS England.

genomicseducation.hee.nhs.u...

Further, there is very clearly research within the NHS which requires DIO2 sequence testing.

Treatment of suboptimal maternal thyroid function as a window to mechanisms of childhood brain development and function

IRAS ID

200718

hra.nhs.uk/planning-and-imp...

The role of adipose DIO2 on thyroid hormone levels

Assessing the contribution of subcutaneous adipose tissue to circulating free triiodothyronine and the influence of DIO2 polymorphisms upon dose requirements in suppressive levothyroxine therapy in athyreotic patients

IRAS ID

125614

hra.nhs.uk/planning-and-imp...

And this might be of interest:

New Survey: Whole Genome Sequencing through the NHS

geneticalliance.org.uk/news...

[marigold22]

A positive DIO2 gene test (heterogenous, ie from one parent) allowed me to keep my T3 prescription. I've used it on a few occasions when an endo starts to suggest either I reduce my T3 dose or add in T4. It's the best money I've spent. I think it still costs around £100. I used Regenerus.