ReviewPediatric investigation2022
Genetics of congenital hypothyroidism: Modern concepts.
Review in Pediatric investigation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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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.
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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.
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Who cites it
30 citing papers in PubMed, 43 citations in OpenAlex.
- Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026Article
- Human thyroid organoids: tools for understanding thyroid diseases and development.Nature reviews. Endocrinology · 2026Review
- Review
- Thyroid dyshormonogenesis caused by iodotyrosine deiodinase pathogenic variant: three cases presenting in adolescence.JCEM case reports · 2026Article
- Trajectories of growth and language development among children with congenital hypothyroidism concerning gender differences: Egyptian study.BMC pediatrics · 2026Article
- Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome.Endocrine journal · 2026Article
- Methyltransferase like 3 promotes thyroid folliculogenesisJournal of translational internal medicine · 2026Article
- Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.International journal of molecular sciences · 2025Review
- Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.International journal of neonatal screening · 2025Article
- Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?Italian journal of pediatrics · 2025Article
- 50 YEARS OF NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM: EVOLUTION OF INSIGHTS IN ETIOLOGY, DIAGNOSIS AND MANAGEMENT: Transient or permanent congenital hypothyroidism: from milestones to current and future perspectives.European thyroid journal · 2025Review
- Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.European thyroid journal · 2025Review
- Newborn screening for primary congenital hypothyroidism: past, present and future.European thyroid journal · 2025Review
- Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start.European thyroid journal · 2025Review
- Newborn screening for central congenital hypothyroidism: past, present and future.European thyroid journal · 2025Review
- InvestigatingFrontiers in endocrinology · 2025Article
- Primary congenital hypothyroidism: a clinical review.Frontiers in endocrinology · 2025Review
- Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.International journal of neonatal screening · 2024Article
- Commentary on "Deciphering the mystery of CHNG3"Annals of pediatric endocrinology & metabolism · 2024Article
- The longitudinal growth trajectory of children with congenital hypothyroidism during the first 3 years of life.European journal of pediatrics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world. CH may be due to developmental or functional thyroid defects (primary or peripheral CH) or be hypothalamic-pituitary in origin (central CH). In most cases, primary CH is caused by a developmental malformation of the gland (thyroid dysgenesis, TD) or by a defect in thyroid hormones synthesis (dyshormonogenesis, DH). TD represents about 65% of CH and a genetic cause is currently identified in fewer than 5% of patients. The remaining 35% are cases of DH and are explained with certainty at the molecular level in more than 50% of cases. The etiology of CH is mostly unknown and may include contributions from individual and environmental factors. In recent years, the detailed phenotypic description of patients, high-throughput sequencing technologies, and the use of animal models have made it possible to discover new genes involved in the development or function of the thyroid gland. This paper reviews all the genetic causes of CH. The modes by which CH is transmitted will also be discussed, including a new oligogenic model. CH is no longer simply a dominant disease for cases of CH due to TD and recessive for cases of CH due to DH, but a far more complex disorder.
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Registered trials
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.