Evidence map›Paper›PMID 38812002›Full record

ArticleItalian journal of pediatrics2024

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

Elisabetta Sciarroni, Lucia Montanelli, Caterina Di Cosmo, Brunella Bagattini, Simone Comi, Luisa Pignata, Alessandro Brancatella, Giuseppina De Marco, Eleonora Ferrarini, Chiara Nencetti and 5 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Italian journal of pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Elisabetta SciarroniDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy. e.sciarroni@gmail.com.ORCID http://orcid.org/0000-0002-7695-3938
Lucia MontanelliDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Caterina Di CosmoDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Brunella BagattiniDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Simone ComiDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Luisa PignataDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Alessandro BrancatellaDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Giuseppina De MarcoDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Eleonora FerrariniDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Chiara NencettiLaboratory of Chemistry and Endocrinology, University Hospital of Pisa, 56124, Pisa, Italy.
Maria Rita SessaLaboratory of Chemistry and Endocrinology, University Hospital of Pisa, 56124, Pisa, Italy.
Francesco LatrofaDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Ferruccio SantiniDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Massimo TonaccheraDepartment of Clinical and Experimental Medicine, Endocrine Unit, Research Center of Excellence AmbiSEN, University of Pisa, 56124, Pisa, Italy.
Patrizia AgrettiLaboratory of Chemistry and Endocrinology, University Hospital of Pisa, 56124, Pisa, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn 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 organification defect was detected through the perchlorate-induced iodide discharge test. NGS identified a novel homozygous mutation in exon 18 of the SLC26A7 gene (P628Qfs*11), which encodes for a new iodide transporter. This variant is predicted to result in a truncated protein. Notably, the patient's euthyroid brother was heterozygous for the same mutation. No renal acid-base abnormalities were found and the administration of 1 mg of iodine failed to correct hypothyroidism.

conclusionsWe described the first case of goitrous CH due to a homozygous mutation of the SLC26A7 gene diagnosed during late adolescence.

Indexed as

Congenital HypothyroidismHomozygoteMutationSulfate TransportersAdolescentAntiportersGoiterHumansMaleAntiportersSLC26A7 protein, humanSulfate TransportersCase reportCongenital hypothyroidismDyshormonogenic goiterGenetic analysisSLC26A7 gene

Identifiers

PMID38812002
PMCPMC11137895

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.