Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome.

[pendred syndrome]

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness , a partial defect in iodide organification , and dyshormonogenetic goiter . Several cases of Pendred syndrome with follicular thyroid carcinomas were reported previously . Here we report identical twin patients with Pendred syndrome , who had thyroid tumors with distinct histopathological findings . 34 -year -old identical twins with congenital deafness and goiter were referred to our hospital with complaint of neck discomfort . The genetic testing showed that these twin patients were compound heterozygotes carrying the same two mutations in the Pendred 's syndrome (PDS / SLC 26 A 4 ) gene (c 2168 A > G and ins 2110 GCTGG ), which confirmed the diagnoses of Pendred syndrome . They underwent thyroidectomy . Histological examination of the thyroid tumors resected from these twin patients revealed follicular variant of papillary thyroid carcinoma , and diffuse and nodular goiter without any evidence of malignancy , respectively . To our knowledge , the former is the first case of follicular variant of papillary thyroid carcinoma in Pendred Syndrome .