Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice

ObjectiveTo 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.MethodsA retrospective analysis was conducted on TSH screening data from 50,539 newborns in Putian bet...

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Main Authors: Lixian Zhang, Kun Lin, Xinrong Han
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Endocrinology
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Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1616748/full
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author Lixian Zhang
Kun Lin
Xinrong Han
author_facet Lixian Zhang
Kun Lin
Xinrong Han
author_sort Lixian Zhang
collection DOAJ
description ObjectiveTo 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.MethodsA 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.ResultsThe 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, P < 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.ConclusionA 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.
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spelling doaj-art-585dfd891b1442288ea5c8dddf00b8522025-08-20T02:22:16ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-06-011610.3389/fendo.2025.16167481616748Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practiceLixian Zhang0Kun Lin1Xinrong Han2Neonatal Disease Screening Department, Putian Maternal and Child Health Care Hospital, The Affiliated Hospital (Group) of Putian University, Putian, ChinaDepartment of Genetic and Prenatal Diagnosis Center, The Affiliated Hospital (Group) of Putian University, Putian, ChinaNeonatal Disease Screening Department, Putian Maternal and Child Health Care Hospital, The Affiliated Hospital (Group) of Putian University, Putian, ChinaObjectiveTo 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.MethodsA 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.ResultsThe 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, P < 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.ConclusionA 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.https://www.frontiersin.org/articles/10.3389/fendo.2025.1616748/fullnewborn disease screeningcongenital hypothyroidismthyroid-stimulating hormone (TSH)cut-off optimizationseasonal impact
spellingShingle Lixian Zhang
Kun Lin
Xinrong Han
Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice
Frontiers in Endocrinology
newborn disease screening
congenital hypothyroidism
thyroid-stimulating hormone (TSH)
cut-off optimization
seasonal impact
title Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice
title_full Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice
title_fullStr Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice
title_full_unstemmed Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice
title_short Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice
title_sort screening of 50 539 newborns for congenital hypothyroidism optimization of tsh cut off values and seasonal impact in clinical practice
topic newborn disease screening
congenital hypothyroidism
thyroid-stimulating hormone (TSH)
cut-off optimization
seasonal impact
url https://www.frontiersin.org/articles/10.3389/fendo.2025.1616748/full
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AT kunlin screeningof50539newbornsforcongenitalhypothyroidismoptimizationoftshcutoffvaluesandseasonalimpactinclinicalpractice
AT xinronghan screeningof50539newbornsforcongenitalhypothyroidismoptimizationoftshcutoffvaluesandseasonalimpactinclinicalpractice