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

Topics Community

Article

Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.

Journal of clinical research in pediatric endocrinology - 1 Jan 2013

Cassio Alessandra, Nicoletti Annalisa, Rizzello Angela, Zazzetta Emanuela, Bal Milva, Baldazzi Lilia

Abstract excerpt

Thyroid-stimulating hormone receptor (TSHR) loss-of-function (LOF) mutations lead to a wide spectrum of phenotypes, ranging from severe congenital hypothyroidism (CH) to mild euthyroid hyperthyrotropinemia. The degree of TSH resistance depends on the severity of the impairment of the receptor function caused by the mutation and on the number of mutated alleles In this review data about genotype-phenotype...

Topics

Congenital Hypothyroidism
Humans
Mutation
Receptors, Thyrotropin

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23154162
DOI: 10.4274/jcrpe.864
PMCID: PMC3608004

Genes

TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.PMID 23154162Read ↗

Genetics and phenomics of hypothyroidism due to TSH resistance.Semantic proximity Read ↗

[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)].Semantic proximity Read ↗

Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.Semantic proximity Read ↗

Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.Semantic proximity Read ↗

A Novel TSH Receptor Gene Variant Associated with Non-Autoimmune Hyperthyrotropinemia: A Case Report.Semantic proximity Read ↗

TSH resistance revisited.Semantic proximity Read ↗

Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.Semantic proximity Read ↗

Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical HypothyroidismSemantic proximity Read ↗

Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical HypothyroidismSemantic proximity Read ↗

Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.Semantic proximity Read ↗

Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor.Semantic proximity Read ↗

Resistance to thyrotropin.Semantic proximity Read ↗

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