Congenital Hypothyroidism

Known as: CRETINISM, Congenital thyroid insufficiency, CRETINISM, INFANTILE 
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… (More)
National Institutes of Health

Related topics

Related topics

47 relations
Adenomatous goiterCongenital goiterCongenital hypothyroidism:Imp:Pt:Bld.dot:NomEndemic goiter
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Narrower (14)

Athyrotic cretinismDeficiency of iodide peroxidase (disorder)Diabetes Mellitus, Neonatal, with Congenital HypothyroidismEndemic Cretinism
(More)

Broader (3)

Congenital DisordersFetal DiseasesHypothyroidism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
Congenital hypothyroidism
Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle… (More)
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Highly Cited
2007
Highly Cited
2007
Increase in congenital hypothyroidism in New York State and in the United States.
Mandated screening of newborns for congenital hypothyroidism (CH) in NYS was initiated in l978. Currently, every newborn… (More)
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Review
2006
Review
2006
Update of newborn screening and therapy for congenital hypothyroidism.
Unrecognized congenital hypothyroidism leads to mental retardation. Newborn screening and thyroid therapy started within 2 weeks… (More)
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Highly Cited
2006
Highly Cited
2006
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism
We recently described a new neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic… (More)
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Highly Cited
2002
Highly Cited
2002
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
BACKGROUND Several genetic defects are associated with permanent congenital hypothyroidism. Immunologic, environmental, and… (More)
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Review
2000
Review
2000
Is neuropsychological development related to maternal hypothyroidism or to maternal hypothyroxinemia?
Several recent publications have drawn attention to the role of the thyroid hormone status of the mother on the future… (More)
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Review
1999
Review
1999
Congenital hypothyroidism: etiologies, diagnosis, and management.
Congenital hypothyroidism is a common preventable cause of mental retardation. The overall incidence is approximately 1:4000… (More)
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Highly Cited
1998
Highly Cited
1998
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
Permanent congenital hypothyroidism (CH) is a common disease that occurs in 1 of 3,000–4,000 newborns. Except in rare cases due… (More)
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Highly Cited
1989
Highly Cited
1989
Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis.
The fact that neonates who subsequently have severe hypothyroidism have no evidence of the condition at birth suggests the… (More)
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Highly Cited
1979
Highly Cited
1979
Screening for congenital hypothyroidism: results of screening one million North American infants.
Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five… (More)
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