Case Report

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.
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