Has anyone been tested for the Gene defect D102?

[grumpychick]

What did you ask from your doctor - how did they help - what was the outcome?

[Dancerfromparis]

Could you please elaborate on this question what is it and why would one need or want to get this tested? What does it benefit.

Thanks Sandie.

[grumpychick in reply to Dancerfromparis]

It relates to an article in the Thyroid news regarding uptake of thyroxine by the bodys cells - if you have this gene defect it means that your bloods come back saying your levels are within range but that your body is not utilising the thyroxine. Read the article in the Issue 31 of the news letter on page 26-27.

[Barbara]

The article that grumpychick is referring to is 'Breakthrough Discovery: Need For T3 Could Be Genetic' by Dr Gary Pepper, featured in the latest edition of the 'Thyroid UK News' - the Thyroid UK Newsletter.*

The article can also be accessed on our website at thyroiduk.org.uk/tuk/pages/...

Part 2 of Dr Pepper’s article is based on the original study ‘Common Variation in the DIO2 Gene Predicts Baseline Psychological Well-Being and Response to Combination Thyroxine Plus Triiodothyronine Therapy in Hypothyroid Patients” at jcem.endojournals.org/cgi/c... This study is most definitely NOT for the lay person but Dr Pepper’s article makes it much easier to understand.

* If you would like to subscribe to the Newsletter (much easier to read than staring at a computer screen!) see thyroiduk.org.uk/tuk/pages/...

[Anna2012]

Hi, did ever have the gene test?

[Hidden]

Yes, paid for it (via Thyroid UK link). Result in lay person's terms: 1 good, 1 bad (DIO2 [T92A]° – heterozygous genotype TA). According to genetic counsellor it means I function at 70% (feels worse if ill with a virus). Have Hashimoto's. Main residual symptoms (am on 100mcg levothyroxine) are cognitive/psychological: depressive mood, memory impairment, inability to concentrate, foggy thinking, irritability, mental tiredness, everything an effort, no energy after work for anything social, also very dry skin/hair. Awaiting appointment (again) with endocrinologist with trepidation. Last time he tested TSH only and it was OK at 0.35. (This is now nearer 0 as I later upped my own med to 100 from 75mcg in an effort to feel less dismal). Undiagnosed for decades, so not optimistic, but will bring a friend with me, I think. Will let you know how I get on. (It is possible to have 2 bad - monozygous genotype - so then apparently you would function at only about 30%).

[Joybells123]

Hi I have bought it...am about to take it! Will let you know....struggling to get diagnosed but huge thyroid family history. x