ReviewCurrent opinion in pediatrics2011
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Review in Current opinion in pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 2 of them syntheses that pooled it.
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
71 citing papers in PubMed, 2 syntheses or guidelines pooled it, 207 citations in OpenAlex.
- [Clinical guideline of «congenital hypothyroidism»].Problemy endokrinologii · 2022Guideline
- European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2014Guideline
- NADPH oxidases in immunometabolism and disease pathology: mechanistic networks, pollutant triggers, and therapeutic frontiers.Cellular & molecular immunology · 2026Review
- Life-threatening fetal goiter: diagnosis and outcomes in four consecutive cases with critical appraisal-why this diagnosis is not obviously trivial.Archives of gynecology and obstetrics · 2026Article
- Thyroid dyshormonogenesis caused by iodotyrosine deiodinase pathogenic variant: three cases presenting in adolescence.JCEM case reports · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Substrate for Thyroid Hormone Synthesis: Biochemistry, Evolution, and Physiology.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Review
- Amiodarone disrupts thyroid hormone homeostasis and impairs myogenic progression and locomotor function in zebrafish embryos.Journal of muscle research and cell motility · 2026Article
- Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.Biomedical reports · 2025Article
- Iodine Bioavailability and Biochemical Effects ofNutrients · 2024Article
- Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.Italian journal of pediatrics · 2024Article
- GLIS3 expression in the thyroid gland in relation to TSH signaling and regulation of gene expression.Cellular and molecular life sciences : CMLS · 2024Article
- Article
- Revealing the genetic complexity of hypothyroidism: integrating complementary association methods.Frontiers in genetics · 2024Article
- GLIS3 regulates transcription of thyroid hormone biosynthetic genes in coordination with other thyroid transcription factors.Cell & bioscience · 2023Article
- Iodine Biofortification and Seaweed Extract-Based Biostimulant Supply Interactively Drive the Yield, Quality, and Functional Traits in Strawberry Fruits.Plants (Basel, Switzerland) · 2023Article
- Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Etiological, clinical, and laboratory evaluation of congenital hypothyroidism and determination of levothyroxine (LT4) dose at treatment interruption in differentiating permanent vs. transient patients.Turkish journal of medical sciences · 2022Article
- Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.Scientific reports · 2022Article
- A spectrum of recessiveness among Mendelian disease variants in UK Biobank.American journal of human genetics · 2022Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
purpose of reviewOverview of congenital hypothyroidism caused by thyroid hormone synthesis defects, the current understanding of their pathophysiology, and clinical implications of molecular diagnoses. RECENT
findingsGenetic defects in all known thyroid-specific factors required for thyroid hormone synthesis have been described. These include defects in iodide trapping (NIS), in the facilitated iodide efflux across the apical membrane (PDS), the organification of iodide within the follicular lumen (thyroid peroxidase, DUOX2, DUOXA2), the substrate for thyroid hormone synthesis (thyroglobulin) and the ability to recover and retain intrathyroidal iodine (iodotyrosine deiodinase). Clinical and biochemical evaluation aids in selecting the most appropriate candidate gene(s). A definite molecular diagnosis of thyroid dyshormonogenesis allows genetic counseling and has prognostic value in differentiating transient from permanent congenital hypothyroidism and predicting the response of patients to iodine supplementation as adjunct or alternative treatment to L-T4 replacement. SUMMARY: Congenital hypothyroidism due to thyroid dyshormonogenesis is a heterogenic disorder that may be caused by mutations in any of the known steps in the thyroid hormone biosynthesis pathway. An exact molecular diagnosis allows genetic counseling and the identification of asymptomatic mutation carriers at risk of recurrent hypothyroidism, and provides a rationale for adjunct iodide supplementation.
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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.