ArticleAnnals of pediatric endocrinology & metabolism2018
Clinical genetics of defects in thyroid hormone synthesis.
Article in Annals of pediatric endocrinology & metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Article
- The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.Annals of medicine · 2025Review
- Methionine Supplementation Benefits Lipogenesis in Goat Intramuscular Adipocytes, Likely by Inhibiting the Expression ofAnimals : an open access journal from MDPI · 2025Article
- Thyroid peroxidase gene variants and autoimmunity in subclinical hypothyroidism: molecular mechanisms and clinical implications.Molecular biology reports · 2025Review
- Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.International journal of molecular sciences · 2025Article
- Clinical Insight into Congenital Hypothyroidism Among Children.Children (Basel, Switzerland) · 2025Review
- From deficiency to excess: the impact of iodine excess on reproductive health.Frontiers in endocrinology · 2025Review
- Clinical use of thyroglobulin: not only thyroid cancer.Endocrine · 2024Review
- Clinical and molecular study of patients with thyroid dyshormogenesis and variants in theFrontiers in endocrinology · 2024Article
- Comparison between transient and permanent congenital hypothyroidism on a thyroid function test after re-evaluation.Annals of pediatric endocrinology & metabolism · 2023Article
- Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.Endocrine · 2022Article
- Long-Term Course of Hypothyroidism Detected through Neonatal TSH Screening in a Population-Based Cohort of Very Preterm Infants Born at Less than 32 Weeks of Gestation.International journal of neonatal screening · 2021Article
- Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.Frontiers in genetics · 2021Article
- Thyroid Gene Mutations in Pregnant and Breastfeeding Women Diagnosed With Transient Congenital Hypothyroidism: Implications for the Offspring's Health.Frontiers in endocrinology · 2021Review
- Newborn Iodine Status Is Not Related to Congenital Hypothyroidism.The Journal of nutrition · 2020Article
- Review
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1 author.
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Abstract
Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%-15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.
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