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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Bibliographic Details
Main Authors: Sarah Catharina Grünert, Miriam Schmidts, Joachim Pohlenz, Matthias Volkmar Kopp, Markus Uhl, Karl Otfried Schwab
Format: Article
Language:English
Published: Hindawi Limited 2011-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2011/369871