Looking Beyond Thyroid Malignancy: An Unusual Case of Dyshormonogenetic Goiter in Rural India

Dyshormonogenetic goiter (DG) is a rare cause of congenital hypothyroidism (CH) occurring due to the lack of enzymes necessary for thyroid hormone synthesis. If left untreated, it impairs hormone production leading to developmental and metabolic complications. Morphologically, it is characterized by architectural and cellular pleomorphism that may mimic thyroid malignancy causing difficulties in diagnosis. Thus, accurate histopathological evaluation is crucial in distinguishing DG from malignancy. We report a case of a 13-year-old female diagnosed with hypothyroidism at the age of six. Over time, she exhibited slow development of a multinodular goiter and began experiencing dyspnea in the supine position. Ultrasonography confirmed an enlarged thyroid gland with solid hypoechoic nodules devoid of calcifications, so a total thyroidectomy was performed. Gross examination revealed that the gland was notably enlarged with a grey-tan nodular appearance with few cystic hemorrhagic areas and had a firm rubbery texture. Microscopy identified microfollicular cells with significant hyperplasia and cytologic atypia along with scant colloid, indicative of DG. Histopathological literature has been essential to prevent overdiagnosis of malignancy. Additionally, the authors suggest that it is crucial to include DG in the differential diagnosis when evaluating potential causes of CH.