Genetic disorders of thyroid development, hormone biosynthesis and signalling

[helvella]

This is an overview of the known genetic disorders. As such, it does not go into great depth about each possibility. But it does give sufficient to get the basic ideas and pointers to other sources of information.

Clin Endocrinol (Oxf). 2022 Aug 23.

doi: 10.1111/cen.14817. Online ahead of print.

Genetic disorders of thyroid development, hormone biosynthesis and signalling

Carla Moran 1 , Nadia Schoenmakers 1 , W Edward Visser 2 , Erik Schoenmakers 1 , Maura Agostini 1 , Krishna Chatterjee 1

Affiliations

• PMID: 35999191

• DOI: 10.1111/cen.14817

Abstract

Development and differentiation of the thyroid gland is directed by expression of specific transcription factors in the thyroid follicular cell which mediates hormone biosynthesis. Membrane transporters are rate-limiting for cellular entry of thyroid hormones (T4, T3) into some tissues, with selenocysteine-containing, deiodinase enzymes (DIO1, DIO2) converting T4 to the biologically active hormone T3. Thyroid hormones regulate expression of target genes via hormone-inducible nuclear receptors (TRα, TRβ) to exert their physiological effects. Primary congenital hypothyroidism (CH) due to thyroid dysgenesis may be mediated by defects in thyroid transcription factors or impaired TSH receptor function. Dyshormonogenic CH is usually due to mutations in genes mediating thyroidal iodide transport, organification or iodotyrosine synthesis and recycling. Disorders of thyroid hormone signalling encompass conditions due to defects in membrane thyroid hormone transporters, impaired hormone metabolism due to deficiency of deiodinases and syndromes of Resistance to Thyroid Hormone due to pathogenic variants in either TRα or TRβ. Here, we review the genetic basis, pathogenesis and clinical features of congenital, dysgenetic or dyshormonogenic hypothyroidism and disorders of thyroid hormone transport, metabolism and action. This article is protected by copyright. All rights reserved.

Keywords: Congenital hypothyroidism; thyroid dysgenesis; thyroid hormone receptors.; thyroid hormone resistance; thyroid hormones.

The author manuscript version is currently freely accessible as a PDF download- though it is double-line spaced:

pubmed.ncbi.nlm.nih.gov/359...

[radd]

Thank you for posting helvella.