Genetic Defects in Thyroid Hormone Synthesis and Action
In the remaining 15-20% of cases, CH is caused by inborn errors in the molecular steps required for the biosynthesis of thyroid hormones, and generally it is characterized by enlargement of the gland (goiter), presumably due to elevated TSH levels [9]. Generally, thyroid dyshormonogenesis shows classical Mendelian recessive inheritance. ................
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