Congenital Hypothyroidism
"Congenital Hypothyroidism" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
| Descriptor ID |
D003409
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| MeSH Number(s) |
C05.116.099.343.347 C05.116.132.256 C16.320.240.625 C19.297.155 C19.874.482.281
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Congenital Hypothyroidism".
Below are MeSH descriptors whose meaning is more specific than "Congenital Hypothyroidism".
This graph shows the total number of publications written about "Congenital Hypothyroidism" by people in this website by year, and whether "Congenital Hypothyroidism" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 |
| 2009 | 0 | 1 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
| 2021 | 0 | 1 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Congenital Hypothyroidism" by people in Profiles.
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The longitudinal growth trajectory of children with congenital hypothyroidism during the first 3?years of life. Eur J Pediatr. 2024 Sep; 183(9):4123-4131.
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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809.
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Does initial dosing of levothyroxine in infants with congenital hypothyroidism lead to frequent dose adjustments secondary to iatrogenic hyperthyroidism on follow-up? J Pediatr Endocrinol Metab. 2018 Jun 27; 31(6):597-600.
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Differential Gene Dosage Effects of Diabetes-Associated Gene GLIS3 in Pancreatic ? Cell Differentiation and Function. Endocrinology. 2017 01 01; 158(1):9-20.
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Novel EED mutation in patient with Weaver syndrome. Am J Med Genet A. 2017 Feb; 173(2):541-545.
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Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA. Horm Res Paediatr. 2016; 86(3):169-177.
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Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families. Pediatrics. 2016 05; 137(5).
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A novel presentation of diffuse lung disease caused by congenital hypothyroidism. J Pediatr. 2009 Oct; 155(4):593-5.
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The Kr?ppel-like zinc finger protein Glis3 directly and indirectly activates insulin gene transcription. Nucleic Acids Res. 2009 May; 37(8):2529-38.
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Pseudohypoparathyroidism type 1a with congenital hypothyroidism. J Pediatr Endocrinol Metab. 2006 Aug; 19(8):1049-52.