Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.

Thyroid : official journal of the American Thyroid Association - 1 Mar 2022

Salas-Lucia Federico, França Monica M, Amrhein James A, Weir J Elizabeth, Dumitrescu Alexandra M, Refetoff Samuel

Abstract excerpt

We report a patient with congenital hypothyroidism due to athyreosis complicated by a heterozygous thyroid hormone receptor beta (THRβ) gene mutation (R320L), resulting in a severe resistance to thyroid hormone beta phenotype. The proband inherited the mutant allele from his father, presenting a very mild phenotype. While the precise reason for this discrepancy remains unknown, we postulate the possibility of de...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Hypothyroidism
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Thyroid Dysgenesis

Share to Thyroid Hormone Receptors beta

Share to Thyroid Hormone Resistance Syndrome

Share to Thyroid Hormones

Share to Thyrotropin

Share to Thyroxine

Source

Open in PubMed Open full text

Identifiers

PMID: 34969265
DOI: 10.1089/thy.2021.0523
PMCID: PMC8971974

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.PMID 34969265Read ↗

Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ).Semantic proximity Read ↗

A new TRβ mutation in resistance to thyroid hormone syndrome.Semantic proximity Read ↗

Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene.Semantic proximity Read ↗

Clinically Symptomatic Resistance to Thyroid Hormone β Syndrome Because of THRB Gene Mosaicism.Semantic proximity Read ↗

Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.Semantic proximity Read ↗

A case of resistance to thyroid hormone beta and literature review: Case report.Semantic proximity Read ↗

Resistance to Thyroid Hormone Beta: A Focused Review.Semantic proximity Read ↗

Identification and characterization of a novel de novo mutation (L346V) in the thyroid hormone receptor beta gene in a family with generalized thyroid hormone resistance.Semantic proximity Read ↗

Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report.Semantic proximity Read ↗

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).Semantic proximity Read ↗

Resistance to Thyroid Hormones: A Case-Series Study.Semantic proximity Read ↗

A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.