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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1949 1
1950 1
1954 2
1955 1
1956 4
1957 4
1958 1
1959 2
1960 3
1961 2
1962 1
1963 4
1964 15
1965 3
1966 1
1967 5
1968 8
1969 9
1970 11
1971 9
1972 13
1973 3
1974 6
1975 2
1976 4
1977 5
1978 5
1979 12
1980 4
1981 11
1982 12
1983 11
1984 10
1985 13
1986 8
1987 5
1988 11
1989 14
1990 10
1991 13
1992 10
1993 40
1994 14
1995 13
1996 20
1997 25
1998 27
1999 40
2000 28
2001 29
2002 38
2003 47
2004 52
2005 55
2006 53
2007 60
2008 57
2009 59
2010 74
2011 66
2012 71
2013 77
2014 71
2015 86
2016 96
2017 101
2018 89
2019 90
2020 88
2021 127
2022 117
2023 100
2024 37

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1,995 results

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Page 1
Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B. Kostopoulou E, et al. Hormones (Athens). 2021 Jun;20(2):225-236. doi: 10.1007/s42000-020-00267-x. Epub 2021 Jan 5. Hormones (Athens). 2021. PMID: 33400193 Review.
METHODS: A literature review was conducted of gene defects causing congenital hypothyroidism. RESULTS: Mutations in five genes have predominantly been implicated in thyroid dysgenesis (TSHR, FOXE1, NKX2-1, PAX8, and NKX2-5), the primary cause of CH (85%), and mutati …
METHODS: A literature review was conducted of gene defects causing congenital hypothyroidism. RESULTS: Mutations in five genes …
New genetics in congenital hypothyroidism.
Stoupa A, Kariyawasam D, Muzza M, de Filippis T, Fugazzola L, Polak M, Persani L, Carré A. Stoupa A, et al. Endocrine. 2021 Mar;71(3):696-705. doi: 10.1007/s12020-021-02646-9. Epub 2021 Mar 1. Endocrine. 2021. PMID: 33650047 Review.
INTRODUCTION: Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preventable forms of mental retardation worldwide. ...Primary CH is caused essentially by abnormal thyroid gland morphogenesis (thyroid dysgenesi …
INTRODUCTION: Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preve …
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M. van Trotsenburg P, et al. Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. Thyroid. 2021. PMID: 33272083 Free PMC article. Review.
The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. ...Sum …
The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic …
Genetics and management of congenital hypothyroidism.
Persani L, Rurale G, de Filippis T, Galazzi E, Muzza M, Fugazzola L. Persani L, et al. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):387-396. doi: 10.1016/j.beem.2018.05.002. Epub 2018 May 19. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30086865 Review.
Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH), however familial forms are uncommon. CH can be due to morphogenetic or functional defects and several genes have been originally associated either with thyroid dysgenesis …
Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH), however familial forms are unco …
Update on congenital hypothyroidism.
Cherella CE, Wassner AJ. Cherella CE, et al. Curr Opin Endocrinol Diabetes Obes. 2020 Feb;27(1):63-69. doi: 10.1097/MED.0000000000000520. Curr Opin Endocrinol Diabetes Obes. 2020. PMID: 31789720 Review.
The discovery of new genetic causes of central congenital hypothyroidism, including the X-linked genes IGSF1, TBL1X, and IRS4, has begun to expand our understanding of thyroid axis regulation. ...SUMMARY: Prompt identification and adequate treatment of patien …
The discovery of new genetic causes of central congenital hypothyroidism, including the X-linked genes IGSF1, TBL1X, an …
[Neonatal screening for congenital hypothyroidism.].
López Galera RM, Castiñeiras Ramos D, Rocha H. López Galera RM, et al. Rev Esp Salud Publica. 2021 Jan 26;95:e202101010. Rev Esp Salud Publica. 2021. PMID: 33496272 Free article. Review. Spanish.
BACKGROUND: Thyroid hormones are essential for normal brain development, with congenital hypothyroidism (CH) being the most frequent cause of mental retardation that can be prevented. ...
BACKGROUND: Thyroid hormones are essential for normal brain development, with congenital hypothyroidism (CH) being the most fr …
Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.
Klosinska M, Kaczynska A, Ben-Skowronek I. Klosinska M, et al. Front Endocrinol (Lausanne). 2022 Mar 18;13:860862. doi: 10.3389/fendo.2022.860862. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35370986 Free PMC article. Review.
The decreased level of thyroxine regardless of cause may lead to delayed mental development. Congenital hypothyroidism (CH) is a disorder highly prevalent in premature neonates and it originates from maternal factors, perinatal and labor complications, genetic …
The decreased level of thyroxine regardless of cause may lead to delayed mental development. Congenital hypothyroidism (CH) is …
Genetics of congenital hypothyroidism.
Park SM, Chatterjee VK. Park SM, et al. J Med Genet. 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158. J Med Genet. 2005. PMID: 15863666 Free PMC article. Review.
Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. ...This review focuses on the genetic aspects of primary …
Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothy …
Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP. Lauffer P, et al. Front Endocrinol (Lausanne). 2021 Sep 9;12:686317. doi: 10.3389/fendo.2021.686317. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34566885 Free PMC article. Review.
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. ...Central CH may occur in isolation, but in the majority of cases (60%) it is part of combined pitui …
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation …
Hypothyroidism and hyperthyroidism.
Guerri G, Bressan S, Sartori M, Costantini A, Benedetti S, Agostini F, Tezzele S, Cecchin S, Scaramuzza A, Bertelli M. Guerri G, et al. Acta Biomed. 2019 Sep 30;90(10-S):83-86. doi: 10.23750/abm.v90i10-S.8765. Acta Biomed. 2019. PMID: 31577260 Free PMC article. Review.
Congenital hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormones. ...Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment, congenital hypothyroidism leads to …
Congenital hypothyroidism is a condition in which the thyroid gland does not produce enough thyroid hormones. ...Slow linear g …
1,995 results