Evidence map›Paper›PMID 41303336›Full record

ReviewInternational journal of molecular sciences2025

Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.

Niki Dermitzaki, Anastasios Serbis, Maria Baltogianni, Dimitra Gialamprinou, Lida Eleni Giaprou, Chrysoula Kosmeri, Vasileios Giapros

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Pooled it
  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

7 authors.

Niki DermitzakiNeonatal Intensive Care Unit, School of Medicine, University of Ioannina, 45500 Ioannina, Greece.ORCID 0009-0006-7287-7401
Anastasios SerbisPediatric Department, School of Medicine, University of Ioannina, 45500 Ioannina, Greece.ORCID 0000-0001-5422-3988
Maria BaltogianniNeonatal Intensive Care Unit, School of Medicine, University of Ioannina, 45500 Ioannina, Greece.
Dimitra GialamprinouSecond Neonatal Department and Neonatal Intensive Care Unit (NICU), "Papageorgiou" University Hospital, Aristotle University of Thessaloniki, 56403 Thessaloniki, Greece.
Lida Eleni GiaprouNeonatal Intensive Care Unit, School of Medicine, University of Ioannina, 45500 Ioannina, Greece.
Chrysoula KosmeriPediatric Department, School of Medicine, University of Ioannina, 45500 Ioannina, Greece.ORCID 0000-0003-1244-375X
Vasileios GiaprosNeonatal Intensive Care Unit, School of Medicine, University of Ioannina, 45500 Ioannina, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital hypothyroidism (CH) is one of the most common endocrine disorders of childhood. The primary form of CH is attributable to thyroid dysgenesis (agenesis, hypoplasia, or ectopy) in 65-85% of cases, with the remaining cases being attributed to dyshormogenesis. Thyroid dysgenesis was considered a sporadic disease. However, the recent advantages of molecular techniques have significantly contributed to the understanding of the pathogenesis of the disease. The higher prevalence of congenital malformations and syndromes in patients with CH compared to the general population supports the genetic basis. This narrative review aims to provide an overview of the identified and potential genetic causes of thyroid dysgenesis. Mutations in ten genes involved in thyroid gland development during embryogenesis,

Indexed as

Congenital HypothyroidismThyroid DysgenesisThyroid GlandGenetic Predisposition to DiseaseHumansMutationPAX8 Transcription FactorPAX8 Transcription Factorcongenital hypothyroidismmolecular geneticsthyroid dysgenesis

Identifiers

PMID41303336
PMCPMC12652594

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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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.