Zhang Lixian, Lin Kun, Han Xinrong
Neonatal Disease Screening Department, Putian Maternal and Child Health Care Hospital, The Affiliated Hospital (Group) of Putian University, Putian, China.
Department of Genetic and Prenatal Diagnosis Center, The Affiliated Hospital (Group) of Putian University, Putian, China.
Front Endocrinol (Lausanne). 2025 Jun 27;16:1616748. doi: 10.3389/fendo.2025.1616748. eCollection 2025.
To analyze the incidence of congenital hypothyroidism (CH) in Putian, optimize the thyroid-stimulating hormone (TSH) screening cut-off value, and improve diagnostic efficiency and accuracy.
A retrospective analysis was conducted on TSH screening data from 50,539 newborns in Putian between July 2020 and November 2022. TSH concentrations in dried blood spots were measured using time-resolved fluorescence immunoassay (TRFIA). The optimal cut-off value was evaluated using percentile analysis and receiver operating characteristic (ROC) curves. Confirmatory tests included serum TSH, free thyroxine (FT4), and thyroid ultrasound.
The detection rate of CH was 1:1,232 (41 cases), with an overall detection rate of 1:555 (including 50 cases of hyperthyrotropinemia). The P99 percentile method determined a TSH cut-off of 11.1 μIU/mL, while ROC curve analysis indicated an optimal cut-off range of 9.33-9.43 μIU/mL (sensitivity 100%, specificity 98.1%, area under the curve [AUC] = 0.997, < 0.0001). Adopting a revised cut-off of 9.5 μIU/mL reduced recall rates by 10.62% but missed 1 case of hyperthyrotropinemia. Initial TSH positivity exhibited seasonal fluctuations, with higher rates in winter than summer. Among 68 initially negative cases with subsequent elevated venous TSH, 2 were confirmed as CH, highlighting the need for secondary screening in high-risk groups.
A TSH cut-off of 9.5 μIU/mL optimizes CH screening in Putian, balancing sensitivity (100%) and specificity (98.1%). Seasonal TSH variations and high-risk cases (e.g., preterm infants) highlight the need for tailored protocols. This approach improves screening efficiency and reduces recalls, supporting region-specific adjustments.
分析莆田市先天性甲状腺功能减退症（CH）的发病率，优化促甲状腺激素（TSH）筛查临界值，提高诊断效率和准确性。
对2020年7月至2022年11月期间莆田市50539例新生儿的TSH筛查数据进行回顾性分析。采用时间分辨荧光免疫分析法（TRFIA）检测干血斑中的TSH浓度。使用百分位数分析和受试者工作特征（ROC）曲线评估最佳临界值。确诊试验包括血清TSH、游离甲状腺素（FT4）和甲状腺超声检查。
CH的检出率为1:1232（41例），总体检出率为1:555（包括50例高促甲状腺素血症）。第99百分位数法确定TSH临界值为11.1 μIU/mL，而ROC曲线分析表明最佳临界值范围为9.33 - 9.43 μIU/mL（灵敏度100%，特异性98.1%，曲线下面积[AUC]=0.997，<0.0001）。采用9.5 μIU/mL的修订临界值可使召回率降低10.62%，但漏诊1例高促甲状腺素血症。初始TSH阳性表现出季节性波动，冬季高于夏季。在68例初始阴性但随后静脉TSH升高的病例中，2例被确诊为CH，这凸显了高危人群二次筛查的必要性。
9.5 μIU/mL的TSH临界值优化了莆田市的CH筛查，平衡了灵敏度（100%）和特异性（98.1%）。TSH的季节性变化和高危病例（如早产儿）凸显了制定个性化方案的必要性。这种方法提高了筛查效率并减少了召回率，支持进行地区特异性调整。
