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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… 
National Institutes of Health

Related topics

Related topics

46 relations
Adenomatous goiterCongenital goiterCongenital hypothyroidism:Imp:Pt:Bld.dot:NomEndemic goiter

Narrower (14)

Athyrotic cretinismCongenital iodine deficiency syndromeDeficiency of iodide peroxidase (disorder)Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

Broader (3)

Congenital DisordersFetal DiseasesHypothyroidism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Guyton and Hall: Textbook of Medical Physiology
This new edition is divided into 15 units and each unit has its own divided chapters, altogether consisting of 85 chapters. Unit… 
Review
2012
Review
2012
Management of thyroid dysfunction during pregnancy and postpartum: an Endocrine Society clinical practice guideline.
OBJECTIVE The aim was to update the guidelines for the management of thyroid dysfunction during pregnancy and postpartum… 
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… 
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… 
Review
2005
Review
2005
Genetics of congenital hypothyroidism
Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and… 
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… 
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… 
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… 
Review
1993
Review
1993
Thyroid hormone receptors: multiple forms, multiple possibilities.
  • M. Lazar
  • Endocrine reviews
  • 1993
  • Corpus ID: 12350957
I. Introduction THE biological importance of the thyroid gland has been recognized for centuries (1). The realization in the late… 
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… 
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