2024 European Thyroid Association Guidelines on diagnosis + management of genetic disorders of thyroid hormone transport, metabolism +action

[helvella]

We regularly see discussions about the genetic bases of thyroid issues. However, whilst detailed highly scientific papers exist, few summaries and reviews are available from specialists.

Hopefully this paper will help in understanding some of the genetic issues.

2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action

in European Thyroid Journal

Authors: Luca Persani, Patrice Rodien, Carla Moran, W Edward Visser, Stefan Groeneweg, Robin Peeters, Samuel Refetoff, Mark Gurnell, Paolo Beck-Peccoz, and Krishna Chatterjee

DOI: doi.org/10.1530/ETJ-24-0125

Volume/Issue: Volume 13: Issue 4

Online Publication Date: 03 Aug 2024

Copyright: © the author(s) 2024

Abstract

Impaired sensitivity to thyroid hormones encompasses disorders with defective transport of hormones into cells, reduced hormone metabolism, and resistance to hormone action. Mediated by heritable single-gene defects, these rare conditions exhibit different patterns of discordant thyroid function associated with multisystem phenotypes. In this context, challenges include ruling out other causes of biochemical discordance, making a diagnosis using clinical features together with the identification of pathogenic variants in causal genes, and managing these rare disorders with a limited evidence base. For each condition, the present guidelines aim to inform clinical practice by summarizing key clinical features and useful investigations, criteria for molecular genetic diagnosis, and pathways for management and therapy. Specific, key recommendations were developed by combining the best research evidence available with the knowledge and clinical experience of panel members, to achieve a consensus.

Keywords: clinical practice guideline; deiodinase; diagnosis and management; impaired sensitivity to thyroid hormones; resistance to thyroid hormone; selenoprotein; thyroid hormone receptor; thyroid hormone transporter

Open access here:

etj.bioscientifica.com/view...

In case it is of any interest/use, my blog on deiodinase genetic variants is here:

helvella - DIO1, DIO2 & DIO3 Variants

How to find out more about the DIO1, DIO2 and DIO3 genetic variants.

Last updated 16/09/2024

helvella.blogspot.com/p/hel...

[inthedoldrums]

Thank you so much for this. It is very interesting and it is difficult to find such information all by oneself.

[bikebabe]

hi helvelka - I can’t seem to make the link work. Am I the only one or doing something wrong?

[helvella Administrator Thyroid UK in reply to bikebabe]

All three links are working for me!

That is, the DOI link, the ETJ link and my own blog link.

If you are using a device which doesn't/can't handle .xml links, that could be a problem.

I have copied the PDF version to my Dropbox - try this:

dropbox.com/scl/fi/b4bjxoqn...

This link is not permanent. If you want access to the document, download it while it works!