Dyshormonogenetic goiter in a patient with congenital hypothyroidism: clinical, morphological and genetic features

Dyshormonogenetic goiter (DG) is a rare genetic disorder of thyroid gland development resulting from deficiencies in enzymes involved in thyroid hormone synthesis. Clinical manifestations include congenital hypothyroidism (CH), thyroid enlargement, and nodule formation. Morphologically, the thyroid gland exhibits histoarchitectural heterogeneity and cellular polymorphism, which can mimic malignant neoplasms and complicate differential diagnosis. Morphological examination revealed pronounced polymorphism of thyroid nodules without signs of malignancy. The pathogenic heterozygous variant was detected in the TPO gene by molecular genetic analysis.