Dyshormonogenetic Goiter: A Case Report

Several types of familial goiter have been defined on the basis of clinical and biochemical data. Those goiters caused by inherited enzyme defects in hormone synthesis are called dyshormonogenetic goiters. Because this form of goiter is commonly associated with pleomorphism, hypercellularity and mitotic activity of the follicular epithelium, one should be particularly strict with the criteria for the correct diagnosis, especially in FNA. We report an 11-year-old boy presented with hypothyroidism and thyroid enlargement. FNA result was malignancy. Total thyroidectomy was performed and the pathology report was dyshormonogenetic goiter.