Thyroglobulin (TG) gene variants in cases with congenital goiter

The distinctive phenotypic features of TG gene variants, which are one of the rare causes of dyshormonogenesis, provide an advantage in diagnosis. Therefore, we recommend genetic analysis in cases with low thyroglobulin levels and goiter. Our findings support that TG variants show a heterogeneous distribution over the whole gene. Since the relationship between TG gene variants and thyroid cancer, we suggest that clarification of TG gene variants is important in terms of early diagnosis of thyroid nodule and malignancy.