ArticleEndocrine2021
Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations.
Article in Endocrine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 42 citations in OpenAlex.
- Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.PloS one · 2024Pooled it
- Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.PloS one · 2024Pooled it
- A Comparative Assessment of Large Language Models in Congenital Hypothyroidism: Reliability, Quality and ReadabilityJournal of clinical research in pediatric endocrinology · 2026Article
- Review
- Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.International journal of molecular sciences · 2025Review
- Article
- Primary congenital hypothyroidism: a clinical review.Frontiers in endocrinology · 2025Review
- Quality of life and socioeconomic and educational status in patients with congenital hypothyroidism.Pediatric research · 2024Article
- Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects.Children (Basel, Switzerland) · 2024Article
- Comorbidity in Congenital Hypothyroidism-A Nationwide, Population-based Cohort Study.The Journal of clinical endocrinology and metabolism · 2023Article
- Incidence of primary congenital hypothyroidism over 24 years in Finland.Pediatric research · 2023Article
- Novel Missense Variants inInternational journal of molecular sciences · 2023Article
- Physical Development at School Entry in Children with Congenital Hypothyroidism Diagnosed by the National Program of Newborn Screening in Iran.International journal of endocrinology and metabolism · 2023Article
- Congenital hypothyroidism and thyroid function in a Japanese birth cohort: data from The Japan Environment and Children's Study.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- CaMKIV mediates spine growth deficiency of hippocampal neurons by regulation of EGR3/BDNF signal axis in congenital hypothyroidism.Cell death discovery · 2022Article
- The role of miRNA-624-5p in congenital hypothyroidism and its molecular mechanism by targeting SIRT1.Genes & genomics · 2022Article
- Comparison Among Two Liquid Formulations of L-thyroxine in the Treatment of Congenital Hypothyroidism in the First Month of Life: A Pilot Study.Frontiers in endocrinology · 2022Article
- Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.Frontiers in endocrinology · 2022Review
- Diagnostic Re-Evaluation and Potential Predictor Factors of Transient and Permanent Congenital Hypothyroidism in Eutopic Thyroid Gland.Journal of clinical medicine · 2021Article
- Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok).International journal of neonatal screening · 2021Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe incidence of primary congenital hypothyroidism (CH) has grown progressively and literature data indicate an association between CH and congenital malformations. The purpose of this study is to establish the current incidence of CH in the Italian Region of Piedmont and verify the relationship between CH diagnostic categories and associated malformations.
methodsThe biochemical and clinical data of 105 newborns with CH diagnosed in the period January 2014 to December 2019 were analyzed.
resultsThe incidence of CH in the Italian Piedmont region in the 2014-2019 period increased to 1:1090. Thyroid dysgenesis was responsible for 47.6% (50/105) of all cases, with agenesis in 14.3% (15/105), while ectopia and hypoplasia in 23.8% (25/105) and 9.5% (10/105) of the cases, respectively; dyshormonogenesis defects were found in 52.4% (55/105) of cases. Congenital extra-thyroid anomalies were identified in 33/105 (31.4%) of newborns with CH and mainly involve the cardiac system (17/85, 16.1%), urogenital tract (7/85, 6.7%), gastrointestinal tract (5/105, 4.8%), and the musculoskeletal system (5/105, 4.8%). The highest rate of malformations was observed in patients with thyroid agenesis and dyshormonogenesis, respectively, in 53.5% and 36.4% of cases, while in the presence of thyroid ectopia and hypoplasia, the rate was 12% and 20%, respectively, (p = 0.03).
conclusionIn the Italian region of Piedmont, the incidence of primary CH has been increased over time, with a variation in the percentage of the different forms of CH. Congenital malformations, especially affecting the cardiovascular, urogenital, gastrointestinal, and musculoskeletal systems, seem to be mainly associated with thyroid agenesis or defects in hormonogenesis.
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