A Case of Resistance to Thyroid Hormone (RTH) with a Negative Family History with Diagnosis Based on Persistent Palpitations

[helvella]

OK folks! Line up and respond if you have had a genetic analysis performed? (Meaning not a 23andme you chose, but one offered by a medic to investigate an issue.)

On a more positive note, yet again Persistent Palpitations in someone who was effectively under-dosed. Don't let anyone assume that palpitions only occur when over-dosed/hyperthyroid. Often stated here (that palpitations can occur in both hypo- and hyper-thyroidism) but rarely in the various guidelines.

J UOEH. 2016;38(4):291-296.

A Case of Resistance to Thyroid Hormone (RTH) with a Negative Family History with Diagnosis Based on Persistent Palpitations.

Kurozumi A1, Okada Y, Arao T, Tanaka Y.

Author information

1First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan.

Abstract

Approximately 140 different mutations of thyroid hormone receptor β (TRβ) have been identified in resistance to thyroid hormone (RTH). We report herein a middle-aged man with a negative family history who was diagnosed with RTH based on persistent palpitations. Genetic analysis showed a TRβ mutation causing the substitution of alanine for proline 453 (P453A) in exon 10. Since treatment of RTH is different from that of Graves' disease and thyroid stimulating hormone-producing adenoma (TSHoma), a genetic analysis should be performed even in patients who have a negative family history of RTH and who are free of TSHoma when they present with persistent inappropriate secretion of thyroid stimulating hormone (SITSH).

PMID: 27980311

DOI: 10.7888/juoeh.38.291

ncbi.nlm.nih.gov/pubmed/279...

[DellFinium]

I had palpitations long BEFORE NDT, not after.

[helvella Administrator Thyroid UK in reply to DellFinium]

Added a clarification - indeed, many people here have reported palpitations before and during inadequate treatement - that often resolve on an adequate regime.

[Clutter in reply to helvella]

Helvella,

I'll be gobsmacked if anyone confirms they have had genetic testing on NHS to confirm or rule out RTH.

[helvella Administrator Thyroid UK in reply to Clutter]

So shall I!