 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 | 3 | 0 | 3 | | 2021 | 2 | 0 | 2 | | 2022 | 3 | 0 | 3 |
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Below are the most recent publications written about "Congenital Hypothyroidism" by people in Profiles.
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Cho HR, Sugihara J, Shimizu H, Xiang YY, Bai X, Wang Y, Liao XH, Asa SL, Refetoff S, Liu M. Pathogenesis of Multinodular Goiter in Elderly XB130-Deficient Mice: Alteration of Thyroperoxidase Affinity with Iodide and Hydrogen Peroxide. Thyroid. 2022 04; 32(4):385-396.
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Sugihara J, Wong A, Shimizu H, Zhao J, Cho HR, Wang Y, Refetoff S, Arvan P, Liu M. Thyroidal Transcriptomic Profiles of Pathoadaptive Responses to Congenital Hypothyroidism in XB130 Knockout Mice. Cells. 2022 03 12; 11(6).
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Salas-Lucia F, França MM, Amrhein JA, Weir JE, Dumitrescu AM, Refetoff S. Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2022 03; 32(3):336-339.
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Wang Y, Shimizu H, Xiang YY, Sugihara J, Lu WY, Liao XH, Cho HR, Toba H, Bai XH, Asa SL, Arvan P, Refetoff S, Liu M. XB130 Deficiency Causes Congenital Hypothyroidism in Mice due to Disorganized Apical Membrane Structure and Function of Thyrocytes. Thyroid. 2021 11; 31(11):1650-1661.
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Furman A, Hannoush Z, Echegoyen FB, Dumitrescu A, Refetoff S, Weiss RE. Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid. 2021 10; 31(10):1589-1591.
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Bruellman RJ, Watanabe Y, Ebrhim RS, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5).
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Bruellman R, Watanabe Y, Shareef R, Abdullah MA, Dumitrescu A, Strauss BS, Refetoff S, Weiss RE. Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism. Thyroid. 2020 05; 30(5):780-782.
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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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