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

• Main Authors: Sarah Catharina Grünert (Author), Miriam Schmidts (Author), Joachim Pohlenz (Author), Matthias Volkmar Kopp (Author), Markus Uhl (Author), Karl Otfried Schwab (Author)
• Format: Book
• Published: Hindawi Limited, 2011-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...