Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene

Congenital central hypothyroidism (CCH) is a rare condition occurring in 1 : 20000 to 1 : 50000 newborns. As TSH plasma levels are low, CCH is usually not detected by TSH-based neonatal screening for hypothyroidism, and, as a result, diagnosis is often delayed putting affected children at risk for d...

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Detalles Bibliográficos
Autores principales: Grünert, Sarah Catharina, Schmidts, Miriam, Pohlenz, Joachim, Kopp, Matthias Volkmar, Uhl, Markus, Schwab, Karl Otfried
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350182/
https://www.ncbi.nlm.nih.gov/pubmed/22606512
http://dx.doi.org/10.1155/2011/369871

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350182/
https://www.ncbi.nlm.nih.gov/pubmed/22606512
http://dx.doi.org/10.1155/2011/369871

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