Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene
Figure 3
Proposed diagnostic workup in CCH for differentiation between a panhypopituitarism, a TRH-receptor gene mutation and a TSHβ-gene mutation. Rare other conditions mimicking CCH, such as hypothyroxinemia due to prematurity, primary hypothyroidism with delayed TSH elevation, and transient CCH must also be ruled out.