Mutation analysis of thyroid peroxidase gene in a Chinese family with congenital hypothyroidism and literature review / 中华内分泌代谢杂志

ABSTRACT

In this paper, thyroid peroxidase (TPO) gene mutation was studied in a congenital hypothyroidism (CH) family with 2 patients, to explore the mechanism of c. 2268dupT homozygous mutation leading to thyroid nodules, as well as the relationship between TPO gene mutation and thyroid cancer. The result suggested that TPO gene mutation is one of the reasons for congenital hypothyroidism, TPO gene c. 2268 dupT mutations can lead to thyroid nodules, which may be related to long-term high TSH stimulation and truncated protein accumulation. TPO gene mutations have a certain correlation with thyroid cancer, the risk may increase with the increase of age, but the mechanism is not clear at present. In the future, further research on the correlation and mechanism between the two factors is needed, as well as to determine whether it is necessary to remove the thyroid gland to prevent the accarance of cancer in CH patients with TPO gene mutation with thyroid nodules.