ABSTRACT
Congenital dyshormonogenetic goiter is an inherited form of goiter resulting from a defect of thyroid hormone biosynthesis. Virtually all the steps but one of thyroid hormonogenesis may be affected (Figure 13.1 and Table 13.1). The goiter constitutes the effort of the thyroid gland to overcome the defective hormone biosynthesis and it can be associated with normal thyroid function or with hypothyroidism. Goiter does not occur in cases of defects in thyroid-stimulating hormone receptor (TSHR) or its signaling in which a hypoplastic gland is usually observed.
