Genetic Defects in Thyroid Hormone Synthesis and Action

A number of mutations in the . PDS. gene have been described in patients with Pendred syndrome. Despite the goiter, individuals are likely to be euthyroid and only rarely present congenital hypothyroidism. However, TSH levels are often in the upper limit of the normal range, and hypothyroidism of variable severity may eventually develop (109-111). ................
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