The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone

[helvella]

This is extremely unlikely to be of any direct use to anyone here. My reason for posting is to celebrate the fact that some progress is being made as to the causes of Resistance to Thyroid Hormone. Further, that the paper does make some more general observations and even proposes two forms of RTH be named to highlight the difference (read full paper).

Case Rep Endocrinol. 2018; 2018: 4081769.

Published online 2018 Dec 31. doi: 10.1155/2018/4081769

PMCID: PMC6332952

The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone

1 Yoshitaka Hayashi, 2 Yuka Tsukamoto, 1 and Yasuyuki Okamoto 1

1Okamoto Thyroid Clinic, Asahi-ku, Osaka 535-0031, Japan

2Research Institute of Environmental Medicine, Nagoya University, Aichi 464-8601, Japan

Abstract

A 31-year-old Japanese male patient with a history of atrial fibrillation showed elevated serum levels of free thyroxine and triiodothyronine and a normal level of thyrotropin. The same abnormal hormone pattern was also found in his son. These data indicated that the index patient and the son have thyroid hormone resistance syndrome. Exon sequencing using DNA from these two patients revealed that both patients harbored a heterozygous mutation in the THRB gene: G1244C in exon 9, which results in R320P substitution. Therefore, thyroid hormone resistance syndrome caused by THRB mutation (RTHβ) was diagnosed. The mutation of the 320th arginine to proline has not been found to date. In conclusion, herein, we have described the first case of RTHβ that is associated with R320P mutation.

Full paper freely available here:

ncbi.nlm.nih.gov/pmc/articl...

[LindaC]

Yes, great to see that work is diligently going on - would be great if it were 'bottom up' instead of 'top down', so to speak, but research is research and such a great thing.

[Hidden]

Thank youfor posting. Does give some hope for us resistant chaps that it is being acknowledged and clinical markers are being identified.

[jgelliss]

helvella Great news . Some head ways in Thyroid Land . Lets hope we see more and sooner .

[TSH110]

Out of curiosity I checked to find I’ve got that heterozygous mutation - I don’t really understand how/if it might affect me or if it has/had any impact on my hypothyrodism or medication needs. I did get angina which worsened until I started taking NDT. Do you think it negates your first statement? 😉

Good that these things are coming to light & thanks for posting.

[helvella Administrator in reply to TSH110]

Probably does invalidate what I wrote! Very difficult to know where to go with that information - keep checking what information is available.

[Rachel1958]

It is of interest to me as it has been suggested to me my blood test results indicate Thyroid Hormone Resistance.