Screening Cut-off Value of 17- hydroxyprogesterone for Neonatal Congenital Adrenal Hyperplasia

Qiong WANG; Zhiye QI; Xiaolong ZHAO; Jiang DUAN

doi:10.12259/j.issn.2095-610X.S20250414

Volume 46 Issue 4

Apr. 2025

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Article Navigation > Journal of Kunming Medical University > 2025 > 46(4): 109-114

Qiong WANG, Zhiye QI, Xiaolong ZHAO, Jiang DUAN. Screening Cut-off Value of 17- hydroxyprogesterone for Neonatal Congenital Adrenal Hyperplasia[J]. Journal of Kunming Medical University, 2025, 46(4): 109-114. doi: 10.12259/j.issn.2095-610X.S20250414

Citation:

Qiong WANG, Zhiye QI, Xiaolong ZHAO, Jiang DUAN. Screening Cut-off Value of 17- hydroxyprogesterone for Neonatal Congenital Adrenal Hyperplasia[J]. Journal of Kunming Medical University, 2025, 46(4): 109-114. doi: 10.12259/j.issn.2095-610X.S20250414

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Screening Cut-off Value of 17- hydroxyprogesterone for Neonatal Congenital Adrenal Hyperplasia

doi: 10.12259/j.issn.2095-610X.S20250414

Screening Center for Neonatal Genetic Metabolic Disease，The First Affiliated Hospital of Kunming Medical University，Kunming Yunnan 650032，China

Received Date: 2024-10-16
Available Online: 2025-04-07
Publish Date: 2025-04-25

Abstract

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=5235.187、3682.665、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.
- Neonatal genetic metabolic disease screening,
- Congenital adrenal hyperplasia,
- 17-hydroxyprogesterone,
- Screening cut-off value

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References(24)

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