CoChat
Sign Up
Cited by 82Thyroid Disorders and TreatmentsGenomics and Rare DiseasesHead and Neck Anomalies

The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.

Genetics and management of congenital hypothyroidism

Persani, Luca, Rurale, Giuditta, de Filippis, Tiziana, Galazzi, Elena, Muzza, Marina, Fugazzola, Laura·2018·Best Practice & Research Clinical Endocrinology & Metabolism
DOI 10.1016/j.beem.2018.05.002
Open this paper in CoChat — free account

Abstract

Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH), however familial forms are uncommon. CH can be due to morphogenetic or functional defects and several genes have been originally associated either with thyroid dysgenesis or dyshormonogenesis, with a highly variable expressivity and a frequently incomplete penetrance of the genetic defects. The phenotype-driven genetic analyses rarely yielded positive results in more than 10% of cases, thus raising doubts on the genetic origin of CH. However, more recent unsupervised approaches with systematic Next Generation Sequencing (NGS) analysis revealed the existence of hypomorphic alleles of these candidate genes whose combination can explain a significant portion of CH cases. The co-segregation studies of the hypothyroid phenotype with multiple gene variants in pedigrees confirmed the potential oligogenic origin of CH, which finally represents a suitable explanation for the frequent sporadic occurrence of this disease.

Overview

Integrity signals

Registry

Crossref · 10.1016/j.beem.2018.05.002

Cites

47 of 47 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • The oligogenic-origin hypothesis for congenital hypothyroidism could explain the sporadic occurrence, and the variable expression and penetrance of congenital hypothyroidism.

    “This oligogenic-origin hypothesis for congenital hypothyroidism could explain the sporadic occurrence, and the variable expression and penetrance of congenital hypothyroidism.[55][56][57]”

    From Hypothyroidism (2024) · cites this paper as [55]

  • Congenital hypothyroidism affects around 1 in 3000 newborns worldwide and is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability.

    “Affecting around 1 in 3000 newborns worldwide, congenital hypothyroidism is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability.55”

    From Hypothyroidism (2024) · cites this paper as [55]

  • Genetic causes identified for primary congenital hypothyroidism are primarily due to thyroid dysgenesis (<5%) and dyshormonogenesis (~50%).

    “Although genetic causes identified for primary congenital hypothyroidism are primarily due to thyroid dysgenesis (<5%) and dyshormonogenesis (~50%), progress in genotyping techniques (ie, next-generation sequencing) has facilitated the discovery of various novel candidate genes and variants.55,56”

    From Hypothyroidism (2024) · cites this paper as [55]

Citations

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

Metadata

Authors
Persani, L., Rurale, G., de Filippis, T., Galazzi, E., Muzza, M., & Fugazzola, L.
Affiliations
  • University of Milan (IT)
  • IRCCS Istituto Auxologico Italiano (IT)
Corresponding author
Persani, Luca
ORCID
Venue
Best Practice & Research Clinical Endocrinology & Metabolism
Publisher
Elsevier BV
Published
2018-08
Volume
32
Issue
4
Pages
387-396
ISSN
1521-690X (ISSN-L)
DOI
10.1016/j.beem.2018.05.002
OpenAlex
W2803162570
Cited by
82
References
47
Citations by year
2026: 5 · 2025: 6 · 2024: 9 · 2023: 12 · 2022: 10 · 2021: 16 · 2020: 13 · 2019: 9 · 2018: 2
FWCI
1.54
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Best Practice & Research Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Surgery › Head and Neck Anomalies
Keywords
congenital hypothyroidism, genetic etiology, thyroid dysgenesis, dyshormonogenesis, hypomorphic allele, oligogenic inheritance, penetrance, expressivity, candidate genes, co-segregation analysis
MeSH terms
Congenital Hypothyroidism, Genetic Testing, Humans, Mutation, Pedigree, Phenotype, Thyroid Dysgenesis, High-Throughput Nucleotide Sequencing

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review