Anti-TPO polyclonal antibody

Background: Permanent primary congenital hypothyroidism (CH) can be caused by thyroid dysgenesis or dyshormonogenesis. A molecular genetic study is recommended in dyshormonogenesis, in syndromic hypothyroidism and when there is a family history of CH. The aim of this study was to identify a monogenic etiology for CH in selected individuals from a cohort of primary permanent CH. Methods: From an initial cohort of 79 patients with permanent CH (3-19 years), 11 patients were selected for molecular analyses. Nine patients with dyshormonogenesis (normal in-situ gland or goiter) were screened for causative variants, by next-generation sequencing (NGS), in 28 genes known to be responsible for CH. One patient with a family history of CH was screened for the paired-box gene 8 (PAX8) gene and another patient with a syndromic CH was screened for the NKX2-1 gene. Results: We found a monogenic basis of disease in eight patients, involving the thyroid peroxidase (TPO) gene (four patients), the thyroglobulin (TG) gene (two patients), and the PAX8 and NKX2-1 genes (one patient each). Two patients were heterozygotes, one harboring a variant in the TG gene and the other in the SLC5A5 gene. In one patient, we found no potential causative variants in any of the 28 genes screened. We described five novel variants: three in the TG gene, one in the NKX2-1 and one in the SLCSA5 gene, all of them classified as pathogenic. Conclusions: In eight of the 11 screened patients, a monogenic disease was found. These results highlight the advantage of using an NGS panel and provide further data regarding the molecular basis of CH.

Objective: This study was designed to explore the effect of levothyroxine sodium combined with selenium supplement. Methods: A total of 156 patients with Hashimoto's thyroiditis (HT) were treated in our hospital. Among them, 68 patients that were treated with levothyroxine sodium were regarded as the control group (CG), and 88 patients treated with levothyroxine sodium and selenium supplement were the research group (RG). The efficacy, thyroid function, blood selenium levels, serum total cholesterol (TC) and other related cytokines, thyroid autoantibody (TGAb, TPOAb), goiter and adverse reactions were observed. Results: The total effective rate of the RG was higher than that of the CG (P<0.05). After treatment, the thyroid function of the RG was better than that of the CG (P<0.05). The blood selenium level in the RG was significantly higher than that in the CG (P<0.05). After treatment, the expression levels of TG, TC and LDL-C in the RG were lower than those in the CG (P<0.05), and the expression level of HDL-C was higher than that in the CG (P<0.05). The TG-Ab and TPO-Ab levels in the RG were lower than those in the CG (P<0.05). The goiters in the RG were less than that in the CG (P<0.05). The adverse reactions in the RG were lower than those in the CG (P<0.05). Conclusion: Levothyroxine sodium combined with selenium supplement is effective in treating HT. It can effectively improve the thyroid function and TC function of patients, with high safety. Hence, its worth popularizing in clinical use.