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

A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2013

Hermanns Pia, Refetoff Samuel, Sriphrapradang Chutintorn, Pohlenz Joachim, Okamato Jessica, Slyper Leeyat, Slyper Arnold H

Abstract excerpt

A 10-year old child born to consanguineous parents presented with an extremely large goiter, a low free T4 level and free T4 index, and normal TSH concentration. The findings of undetectable thyroglobulin (TG) and low free T4, and an elevated free T3/free T4 ratio suggested the possibility of a defect in TG synthesis. Noteworthy aspects of this case were the extremely elevated thyroidal radioiodide uptake despite...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Consanguinity

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Goiter, Nodular

Share to Mutation, Missense

Share to Organ Size

Share to Pedigree

Share to Thyroglobulin

Source

Open in PubMed Open full text

Identifiers

PMID: 23457313
DOI: 10.1515/jpem-2012-0287
PMCID: PMC4061902

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.PMID 23457313Read ↗

Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.Semantic proximity Read ↗

A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.Semantic proximity Read ↗

A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis.Semantic proximity Read ↗

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.Semantic proximity Read ↗

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.Semantic proximity Read ↗

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.Semantic proximity Read ↗

Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.Semantic proximity Read ↗

Clinical, Biochemical, and Molecular Genetic Characterization of Two Patients with Congenital Hypothyroidism Harboring Novel Compound Heterozygous Variants in the Thyroglobulin GeneSemantic proximity Read ↗

Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.Semantic proximity Read ↗

[Thyroglobulin (Tg) gene and familial Tg synthesis defect].Semantic proximity Read ↗

A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation.Semantic proximity Read ↗

The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.Semantic proximity Read ↗

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