ReviewHormones (Athens, Greece)2021
Genetics of primary congenital hypothyroidism-a review.
Review in Hormones (Athens, Greece), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 73 citations in OpenAlex.
- Congenital Hypothyroidism and Atherosclerosis: An Endocrine Model of Early-Life Cardiovascular Risk.Journal of cardiovascular development and disease · 2026Review
- Review
- Thyroid dyshormonogenesis caused by iodotyrosine deiodinase pathogenic variant: three cases presenting in adolescence.JCEM case reports · 2026Article
- Thyroid peroxidase gene variants and susceptibility to congenital hypothyroidism and autoimmune thyroid disease among Egyptian pediatric cohort.Clinical and experimental pediatrics · 2026Article
- Exploring cardiovascular risk in subclinical hypothyroidism: The impact of TSHR gene expression and systemic biomarkers.Journal of cardiovascular and thoracic research · 2026Article
- Predicting Pathogenicity ofInternational journal of molecular sciences · 2026Article
- Early prediction of transient versus permanent congenital hypothyroidism: a retrospective cohort study.Annals of pediatric endocrinology & metabolism · 2026Article
- Methyltransferase like 3 promotes thyroid folliculogenesisJournal of translational internal medicine · 2026Article
- Value of thyroid volume as a complementary indicator for initial levothyroxine dosing in congenital hypothyroidism: a retrospective cohort study.Frontiers in pediatrics · 2026Article
- Multi-omics study of molecular and genetic bases of orthostatic hypotension.Clinical epigenetics · 2025Article
- The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.Annals of medicine · 2025Review
- Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.International journal of neonatal screening · 2025Article
- Functional mutations in the thyroid-stimulating hormone receptor in natural stickleback populations at sites identical to human disease-causing mutations.BMC ecology and evolution · 2025Article
- Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?Italian journal of pediatrics · 2025Article
- Clinical Insight into Congenital Hypothyroidism Among Children.Children (Basel, Switzerland) · 2025Review
- LINE-1 transposition into murine Thyroglobulin results in congenital thyroid dysplasia.PloS one · 2025Article
- Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.Frontiers in endocrinology · 2025Article
- InvestigatingFrontiers in endocrinology · 2025Article
- Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis.Case reports in medicine · 2025Article
- Derivation of transplantable human thyroid follicular epithelial cells from induced pluripotent stem cells.Stem cell reports · 2024Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCongenital primary hypothyroidism (CH) is a state of inadequate thyroid hormone production detected at birth, caused either by absent, underdeveloped or ectopic thyroid gland (dysgenesis), or by defected thyroid hormone biosynthesis (dyshormonogenesis). A genetic component has been identified in many cases of CH. This review summarizes the clinical and biochemical features of the genetic causes of primary CH.
methodsA literature review was conducted of gene defects causing congenital hypothyroidism.
resultsMutations in five genes have predominantly been implicated in thyroid dysgenesis (TSHR, FOXE1, NKX2-1, PAX8, and NKX2-5), the primary cause of CH (85%), and mutations in seven genes in thyroid dyshormonogenesis (SLC5A5, TPO, DUOX2, DUOXA2, SLC6A4, Tg, and DEHAL1). These genes encode for proteins that regulate genes expressed during the differentiation of the thyroid, such as TPO and Tg genes, or genes that regulate iodide organification, thyroglobulin synthesis, iodide transport, and iodotyrosine deiodination. Besides thyroid dysgenesis and dyshormonogenesis, additional causes of congenital hypothyroidism, such as iodothyronine transporter defects and resistance to thyroid hormones, have also been associated with genetic mutations.
conclusionThe identification of the underlying genetic defects of CH is important for genetic counseling of families with an affected member, for identifying additional clinical characteristics or the risk for thyroid neoplasia and for diagnostic and management purposes.
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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.