Objective:To examine the clinical features and genetic profiles of patients with thyroid peroxidase(TPO) gene mutations and provide diagnostic guidance for clinicians.Methods:A retrospective review of four patients with TPO mutations treated at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from January 2014 to December 2023. Data on demographics, clinical manifestation, genotypes, treatment, and prognosis of these patients were analyzed.Results:Two males and two females, aged 13 to 27 years at diagnosis, presented with goiter as the initial symptom, with three cases menifesting during puberty. Laboratory findings showed mildly elevated or upper-limit-normal serum thyroid-stimulating hormone(TSH) levels, significantly increased free triiodothyronine/free thyroxine(FT 3/FT 4) ratios, and elevated thyroglobulin(TG) levels. Genetic testing revealed compound heterozygous pathogenic or likely pathogenic TPO mutations. Despite regular levothyroxine(L-T 4) therapy, goiter persisted. Three patients required thyroidectomy due to cosmetic or compressive symptoms, with pathology showing follicular hyperplasia. Conclusion:TPO mutations are characterized by adolescent-onset goiter, elevated FT 3/FT 4 ratios, and normal to high TSH. Genetic testing confirms the diagnosis. L-T 4 offers limited improvement, and surgery is often needed.

Objective:To examine the clinical features and genetic profiles of patients with thyroid peroxidase(TPO) gene mutations and provide diagnostic guidance for clinicians.Methods:A retrospective review of four patients with TPO mutations treated at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, from January 2014 to December 2023. Data on demographics, clinical manifestation, genotypes, treatment, and prognosis of these patients were analyzed.Results:Two males and two females, aged 13 to 27 years at diagnosis, presented with goiter as the initial symptom, with three cases menifesting during puberty. Laboratory findings showed mildly elevated or upper-limit-normal serum thyroid-stimulating hormone(TSH) levels, significantly increased free triiodothyronine/free thyroxine(FT 3/FT 4) ratios, and elevated thyroglobulin(TG) levels. Genetic testing revealed compound heterozygous pathogenic or likely pathogenic TPO mutations. Despite regular levothyroxine(L-T 4) therapy, goiter persisted. Three patients required thyroidectomy due to cosmetic or compressive symptoms, with pathology showing follicular hyperplasia. Conclusion:TPO mutations are characterized by adolescent-onset goiter, elevated FT 3/FT 4 ratios, and normal to high TSH. Genetic testing confirms the diagnosis. L-T 4 offers limited improvement, and surgery is often needed.

Objective To compare the prediction of Functional Gait Assessment (FGA) and Berg balance scale (BBS) for fall among community-dwelling older adults aged 75~85 years old. Methods 162 older adults randomly selected from 3 communities in Beijing were evaluated with FGA and BBS. They were divided as fallers and nonfallers according to the history of fall during the last year. Results The scores of FGA and BBS increased significantly in the nonfallers compared with the fallers (P<0.001). The total scores of FGA correlated with the scores of BBS (r=0.723, P<0.001). The total scores of FGA significantly correlated with the scores of items of FGA (P<0.01), except that of walking with eyes closed (P=0.31). According to the Receiver Operating Characteristic (ROC) Curve, the area under the curve was 0.901 for FGA, and 0.872 for BBS. According to the Youden index, the cutoff value of FGA was 19.5, with sensitivity of 85.5% and specificity of 81.2%. The cutoff value of BBS was 48.5, with sensitivity of 78.3% and specificity of 83.3%. Conclusion FGA is more effective than BBS for predicting the fall in community-dwelling older adults, which is more sensitive and similarly specific.