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

Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.

Italian journal of pediatrics - 29 May 2024

Sciarroni Elisabetta, Montanelli Lucia, Di Cosmo Caterina, Bagattini Brunella, Comi Simone, Pignata Luisa, Brancatella Alessandro, De Marco Giuseppina, Ferrarini Eleonora, Nencetti Chiara, Sessa Maria Rita, Latrofa Francesco, Santini Ferruccio, Tonacchera Massimo, Agretti Patrizia

Abstract excerpt

BACKGROUND: In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroidism (CH) in a 19-year-old Tunisian man who presented with severe hypothyroidism and goiter. CASE PRESENTATION: The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate. A partial...

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 Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Antiporters

Share to Goiter

Share to Homozygote

Share to Mutation

Share to Sulfate Transporters

Source

Open in PubMed Open full text

Identifiers

PMID: 38812002
DOI: 10.1186/s13052-024-01672-3
PMCID: PMC11137895

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.PMID 38812002Read ↗

Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis.Semantic proximity Read ↗

A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism.Semantic proximity Read ↗

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.Semantic proximity Read ↗

Genetic Etiology in Patients Diagnosed With Congenital Hypothroidism With New Generation Sequencing: a Single Center ExperienceSemantic proximity Read ↗

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.Semantic proximity Read ↗

Genetics of primary congenital hypothyroidism-a review.Semantic proximity Read ↗

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.Semantic proximity Read ↗

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.Semantic proximity Read ↗

Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.Semantic proximity Read ↗

Clinical genetics of defects in thyroid hormone synthesisSemantic proximity Read ↗

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

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