昆明医科大学学报2025，Vol.46Issue(4)：109-114,6.DOI:10.12259/j.issn.2095-610X.S20250414
新生儿先天性肾上腺皮质增生症17-羟孕酮筛查阳性切值研究
Screening Cut-off Value of 17-hydroxyprogesterone for Neonatal Congenital Adrenal Hyperplasia
摘要
Abstract
Objective To analyze the effects of different gender,gestational age,birth weight and blood collection date on the value of 17-hydroxyprogesterone(17-OHP)in neonatal screening for congenital adrenal hyperplasia(CAH)and to develop a positive cut-off for CAH screening that is appropriate for the laboratory itself.Methods Time-resolved fluorescence immunoassay was used to detect 17-OHP concentration,and Mann-Whitney U test and Kruskal-Wallis H test were used to compare 17-OHP concentration of newborns with the different gender,birth weight,gestational age and blood collection age.The comparison of rates was conducted using the multi-set rate chi-square test and Fisher's exact probability method.The relationship between the clinical features and 17-OHP concentration was analyzed by multiple linear regression,and the cut-off value of 17-OHP screening was 99.5％percentile.Results The 17-OHP concentration of male neonates was higher than that of female neonates,and the difference was statistically significant(Z=-17.768,P<0.05).The 17-OHP concentration of neonates in groups with different gestational age,different birth weight,and different blood collection days were compared respectively,and the difference was statistically significant(χ2=5 235.187、3 682.665、493.414 respectively,P=0.00).Further pair comparison showed that there were statistically significant differences in 17-OHP concentration of neonates at different gestational weeks,gestational age and blood collection days(P<0.05),except that age of blood collection≥3 and<4 days and≥4 and<7 days(Z=-0.950,P=0.342).Neonatal 17-OHP concentration decreased with the gestational age and birth weight increase.There were statistically significant differences in the initial screening positive rate and screening positive rate of 17-OHP among different gestational ages and different birth weights groups(P<0.05),and they decreased with the increase of gestational age,birth weight and age at the time of blood collection.The results of multiple linear regression showed that 17-OHP concentration was related to the several factors,including the gestational age,birth weight,age of blood collection and gender in descending order.Conclusion The effects of various factors on the concentration of 17-OHP in neonatal peripheral blood should be comprehensively considered.The cut-off value of 17-OHP for CAH screening in the Screening Center for Neonatal Genetic Metabolic Diseases in the First Affiliated Hospital of Kunming Medical University is modified to≥14.00 nmol/L for full-term neonates of normal weight and≥36.00 nmol/L for premature or/and low-weight neonates so as to improve the specificity of neonatal CAH screening and reduce the false positives.关键词
新生儿遗传代谢病筛查/先天性肾上腺皮质增生症/17-羟孕酮/筛查切值Key words
Neonatal genetic metabolic disease screening/Congenital adrenal hyperplasia/17-hydroxyprogesterone/Screening cut-off value分类
医药卫生引用本文复制引用
王琼,齐志业,赵小龙,段江..新生儿先天性肾上腺皮质增生症17-羟孕酮筛查阳性切值研究[J].昆明医科大学学报,2025,46(4):109-114,6.基金项目
云南省高层次人才培养计划"名医"专项基金(RLMY20200007) （RLMY20200007）
