Dyshormonogenetic goiter-like changes in a child with congenital hypothyroidism and a euthyroid adult

Dyshormonogenetic goiter is a rare entity that presents in patients who typically have a history of congenital hypothyroidism, and generally arises from a genetic mutation compromising the production of functional thyroxine or thyroglobulin. Clinically, physical manifestations of goiter can result if left untreated. Histologically, the thyroid lesions usually show prominent bridging fibrosis, multiple thyroid nodules with different architectures, microfollicular arrangement, scant colloid, and enlarged vesicular or hyperchromatic nuclei. Cytologically, the features of the lesion are not distinguishable from follicular lesion and follicular neoplasm. We describe two patients exhibiting similar histological and cytological features resembling dyshormonogenetic goiter with cytologic misinterpretation as follicular neoplasm. One was a child with an established history of congenital hypothyroidism. The other was an adult euthyroid patient who presented with an associated parathyroid adenoma. These findings further affirm that cytologically and histologically, morphologic features associated with dyshormonogenetic goiter can also be found in patients without a history of congenital hypothyroidism.