Anyone know a lab doing genetic tests for thyroid resistance syndrome?

I'd like to rule it out for my son... 

[radd]

Aspmama,

With the fickleness held by thyroid hormone replacement I think a lot on this forum have a certain amount of thyroid resistance (reduced tissue response) which hopefully improves with optimal nutrients, etc and an absence of or low thyroid antibodies.

Resistance to thyroid hormone "syndrome" is caused by a mutation of the thyroid hormone receptor beta gene and can be tested by blood. However, I have never read of a blood test directly available to patients. This doesn't mean to say there isn't one available and others may be better informed.

From what I know a genetic mutation is unusual but perhaps this is because it is rarely tested for. Most thyroid hormone resistance is either in the pituitary gland and//or most//all of the peripheral tissues. 

Previously having eliminated the chance of pituitary tumor, I spoke to my endo re this subject and he suggested T3 loading tests enabling him to see the amount of thyroid hormone uptaken, although my health has now seen considerable improvement so I don't know whether this will be carried out now..

A test called a thyrotropin-releasing hormone test can be carried out to differentiate resistance to thyroid hormone from a TSH-secreting pituitary adenoma. This involves a monitored response to an injection of thyrotropin-releasing hormone. 

Remember that symptoms not matching biochemistry results can be down to antibodies, abnormal thyroid hormone binding proteins in the blood, nutrient//iron deficiencies or the pituitary condition mentioned above. Blood tests and an MRI can eliminate these factors.

[Hidden in reply to radd]

Thanks so much for this detailed reply.  I see that pituitary tumours, non cancerous, are pretty common. So my son or I could potentially have one... He is too anxious to endure a scan, but I will try to persuade the team at the sleep clinic to ask the gp to do a full thyroid test with T3, plus D, plus perhaps prolactin, in case his anxiety drops on the brand new medication and he agrees to a blood take. However, I don't rate my chances very high. The genetic condition seems ruled out by his low t4. Can you think of other blood indicators I should order if I can get him to do a Private take?

[mourneadventurer]

Hello Aspmama,

It might be worth having a look at The Great Plains Laboratory Organic Acid Test (urine) and include the GPL-SNP 1000DNA (saliva) sequencing profile alongside.  They also have a very good video on this explained by Dr Matthew Pratt-Hyatt.

I've already completed the 23andme and DIO2 tests but you're still left not knowing if the SNP 's are expressing or not. I've done the organic acid test (OAT) and will also do their DNA profile as it will give me an overall picture and roadmap for future.  By the way the OAT test also picks up on pathogens, MTHFR, Mental health and Detox pathways as well as Oxalate metabolism.  I accessed this test through  a Functional Nutritionist and REGENERUS Laboratories.

Best Wishes

Mourneadventurer

[Hidden in reply to mourneadventurer]

Thanks Mourne. If I can persuade him to give a sample I will try this. Did it show up any mthfr defects for you?

[mourneadventurer in reply to Hidden]

Hello Aspmama,

Yes, these 2 tests together I.e genetic and organic can show where Single Nucleotide polymorphisms (SNP's) are expressing.  By looking at the metabolites and whether they are high, within range or low it is possible to detect key enzyme pathway malfunctions.  I also had homocysteine baselined and repeat tested after 6 months. Then I had serum vitamin B12 tested with NHS, active B12 with Horizon and Knowing how important methylation is I still wanted irrefutable evidence that I was methylating well which thankfully I am despite a genetic pre deposition to do otherwise.  

Hence the Organic Acid test and the methyl Malonic Acid is the metabolite marker for vitamin B12.  I wish I'd found this test sooner and as I said previously I'm going to do the GPL-SNP 1000DNA test  as soon as possible.

It is on the basis of this test that supplementation is personalised to suit my biochemistry and eradicate pathogens whose exotoxins might be driving a background inflammation I was completely unaware of.

All the very best in your efforts to help your son.  I hope these 2 tests help.

Mourneadventurer 

[jimh111]

I am replying with precise wording, so I apologise if it seems pedantic.  Not sure there is anything called 'thryoid resistance syndrome'.

There are two forms of 'resistance to thyroid hormone (RTH)' that have been discovered.  These are genitic mutations of the TR-Alpha1 and TR-Beta1 thyroid hormone receptors.  They are both very rare.  The TR-Alpha1 mutations are recently discovered and present with severe effects including skeletal malformation and profound constipation.  The TR-Beta1 mutations present with an elevated fT4 and a non-suppressed TSH (normal or elevated).  These patients do not show expected signs of hyperthyroidism, they may be clinically euthyroid or hypothyroid.  In most cases these genetic conditions run in families (although the mutations can occur spontaneously).

In the UK these conditions are handled by the endocrinology department at Addenbrookes Hospital.  This is a tertiary care centre and will only accept referrals from an endocrinologist (not a GP).  If your son does not have unusual abnormal thyroid function tests (TSH, fT3, fT4) and does not suffer from severe skeletal problems then he is most unlikely to have one of these conditions.

There are also polymorphisms of the DIO2 gene that is responsible for type-2 deiodinase (t4 to T3 conversion).  This is common and has been shown to have minor effects on hypothyroid patients who are on levothyroxine only treatment.  This would only be relevant if he was already diagnosed and receiving adequate levothyroxine treatment.

My own view is that various endocrine disrupting chemicals in the environment also create a form of resistance to thyroid hormone leading to hypothyroid signs and symptoms with normal thyroid function test results.  There are no tests for these at the moment.

If your son has profound hypothyroid signs and symptoms I'd try and get a trial of thyroid hormone supplementation as this is the only way to find out.  It comes down to good clinical assessment.  Are his symptoms due to impaired thyroid hormone action?

[Hidden in reply to jimh111]

Thanks for this detailed reply. My 18 yr old son is not hypo. His symptoms include high anxiety, raised heart beat, tinnitus, RLS and circadian rhythm dysfunction plus attention deficit of the inattentive kind. All these can relate to hyper, and he fits the description well. However the biochemistry on the one time I got him to do a blood test showed normal tsh 1.35 (.27 - 4.2) ft4 13.9 (12 - 22) but a raised T3, 8.1 (3.5 - 7.7).

Only recently have I wondered if, given the high t3, the tsh should have been lower, and if there might be something to explain this.

It is quite possible that he has a rare condition. His conditions are extreme. 

[jimh111 in reply to Hidden]

The elevated fT3 can go high if there is autoimmune thyroid disease or a goitre.  I've noticed high fT3s sometimes in the forums when a home test kit is used - I don't trust them although they are supposed to be accurate, perhaps it's due to occasional user error.  Also, is he taking anything that could cause these symptoms?

Magnesium is good for the anxiety, heart, tinnitus and RLS.  Magnesuim deficiency is very common.  Mg blood tests are of no use, it's best just to try supplementation and eating green vegetables and tomatoes.

[Hidden in reply to jimh111]

his thyroglobulin and peroxidase antibodies were fine. It was a proper blood draw. no drug is to blame. I loaded him up with magnesium... 

V grateful for your thoughts though. I haven't ruled out a pituitary problem.

[jimh111 in reply to Hidden]

My guess is pituitary is unlikley.  Could possibly be a freak result, sometimes happens, so perhaps another test after a few weeks (from the first one).

[Hidden in reply to jimh111]

Unfortunately when I say high anxiety, I mean so high that getting blood is almost impossible. 

[jimh111 in reply to Hidden]

I understand.  If you have influence over his diet I'd include magnesium rich foods as they may help with anxienty.

[rubyred in reply to jimh111]

I'm not really sure who I'm replying to but have read through this post and find it fascinating. Some of it I have to admit is right over my head. I think I maybe be one of the conversion issue but always wondered if I was thyroid hormone resistant. I had RAI for graves. Took thyroxine but never felt well. I finally feel well but it took 165mcg of T3. My TSH is still suppressed and has been since taking thyroxine. I am well I have my life back I do my pulse and blood pressure but occasionally worry about my level of thyroxine. 

[jimh111 in reply to rubyred]

165 mcg L-T3 is a very high dose, much more than normal.  If your TSH was reasonably normal (not low) and you were not hyperthyroid when you had Graves' then there is a possibility that you have the genetic form of resistance to thyroid hormone, although it is rare.  Otherwise, it is possible you have some unknown form of resistance in which case I'd suggest you get your GP to listen to your heart and prescribe a low dose beta blocker to protect it.  There's no guarantee that the resistance equally affects the heart, in most genetic cases it doesn't.

[rubyred in reply to jimh111]

Hi jimh111, I was over when diagnosed with graves but have since learnt only a little over. I had a goitre and I now know I also had a nodule. After the RAI I was put into thyroxine and can honestly say I never felt well. I was within range for bloods but was always boiling hot but icy cold. I had the most sever restless leg all day long. By the time I started T3 the restless leg had moved into my hands. I started T3. I managed to get it on the NHS but only 40mcg ans no thyroxine. I was doing well. I know the day the thyroxine left my body. I needed more T3. I purchased from Mexico. Increased by 12.5. Felt better for a couple of weeks then would drop down again so increased T3. By the time I felt well and no more relapses I was at the 165mcg. My endo has no idea I take that much. In the winter I find I need another 25mcg. If I try to reduce I get dry skin fatigue constipation all the usual symptoms with brain fog. My

Pulse and blood pressure and body temperature are all with normal range. My endo who supports T3 is fab but since I have been seeing her she has started to concentrate more on the TSH and mine is suppressed but was always suppressed on thyroxine. I have no idea if I'm thyroid hormone resistant but think this can be the only reason my body can tolerate this volume on T3. Freaks me out a bit when I think what I take to get through the day. 😀

[jimh111 in reply to rubyred]

I'm fairly sure it's not the genetic form. More likely to be some form of hormone disruption (no tests available). If you can it would be good for your GP to know, monitor your heart and prescribe a small dose of beta blocker for long term protection. I realise this might be difficult.

[rubyred in reply to jimh111]

Hi yes I know I should own up. I wondered if the easier option was to find a new Endo who was supportive of T3 but less on the TSH. My GP who had looked after me from the bad days passed away and I have another one at the surgery. First words she said to me was O you take That. That isn't prescribed very often. Then when it came to renewing my prescription she had assumed I had a private one. So not sure she would be keen. ☹️

[Hidden in reply to rubyred]

Sounds as though you are monitoring yourself very carefully. Well done figuring out your own needs.

[Hidden in reply to jimh111]

Looking carefully, although he would fit many of the symptoms of RTHbeta he lacks the elevated ft4 ...  

So unless they discover another sub category I should put this thought aside.

[faith63 in reply to Hidden]

Dr. Lowe treated thyroid resistant patients, who had normal labs, with t3.

[rubyred]

Hi, I will look for you ebook as this may help me understand a bit better. I really need to get my head round why I need so much T3 to function. My work chum interestingly has fibromyalgia and the tablets they've tried her on haven't done anything. I've asked her about her thyroid but tests were normal. She's in a bad way now and some days needs a stick for walking. Thank you x