 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
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| 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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 1 | 1 | | 1999 | 2 | 1 | 3 | | 2000 | 1 | 0 | 1 | | 2001 | 1 | 0 | 1 | | 2002 | 1 | 0 | 1 | | 2003 | 1 | 1 | 2 | | 2004 | 2 | 0 | 2 | | 2005 | 1 | 0 | 1 | | 2006 | 0 | 2 | 2 | | 2007 | 3 | 0 | 3 | | 2008 | 1 | 0 | 1 | | 2011 | 3 | 0 | 3 | | 2013 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2016 | 2 | 0 | 2 | | 2017 | 3 | 0 | 3 | | 2018 | 5 | 0 | 5 | | 2020 | 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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Ebrhim RS, Bruellman RJ, Watanabe Y, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß. Horm Res Paediatr. 2019; 92(6):390-394.
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Watanabe Y, Bruellman RJ, Ebrhim RS, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
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Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight. 2018 10 18; 3(20).
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Watanabe Y, Ebrhim RS, Abdullah MA, Weiss RE. A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism. Thyroid. 2018 08; 28(8):1068-1070.
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Watanabe Y, Sharwood E, Goodwin B, Creech MK, Hassan HY, Netea MG, Jaeger M, Dumitrescu A, Refetoff S, Huynh T, Weiss RE. A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69.
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Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R. Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. J Hum Genet. 2018 Apr; 63(4):517-520.
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Hermanns P, Kumorowicz-Czoch M, Grasberger H, Refetoff S, Pohlenz J. Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome. Exp Clin Endocrinol Diabetes. 2018 02; 126(2):85-90.
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Grasberger H, Refetoff S. Resistance to thyrotropin. Best Pract Res Clin Endocrinol Metab. 2017 03; 31(2):183-194.
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Hannoush ZC, Weiss RE. Defects of Thyroid Hormone Synthesis and Action. Endocrinol Metab Clin North Am. 2017 06; 46(2):375-388.
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Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S. DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. Thyroid. 2017 01; 27(1):129-131.
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