Preliminary exploration of 17 α-hydroxyprogesterone cut-off value for neonatal congenital adrenal hyperplasia screening using a genetic screening processor in Sichuan region of China

Yang Lijuan, Zhou Jingyao, Ou Mingcai, Luo Zeming, Zhang Yu, Hu Qi, Chen Xuelian, Yang Yunxia

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Journal of Chongqing Medical University ›› 2024, Vol. 49 ›› Issue (09) : 1201-1204. DOI: 10.13406/j.cnki.cyxb.003584
Clinical research

Preliminary exploration of 17 α-hydroxyprogesterone cut-off value for neonatal congenital adrenal hyperplasia screening using a genetic screening processor in Sichuan region of China

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Abstract

Objective To investigate the cut-off value of 17 α-hydroxyprogesterone（17α-OHP） level in neonatal dried blood spots for congenital adrenal hyperplasia（CAH） screening by using a genetic screening processor（GSP） at Sichuan Neonatal Disease Screening Center. Methods The time-resolved fluorescence method was used to measure the concentration of 17α-OHP in the dried blood spots on neonatal heel blood filter paper of 45423 neonates，and a retrospective analysis was performed for the correlation of gestational age and birth weight with 17α-OHP level in neonates. The percentile method was used to analyze the screening results，and the cut-off value was determined at P99.5. Results The r coefficient between gestational age and 17α-OHP value is -0.30， showing a negative correlation.The r coefficient between birth weight and 17α-OHP value is -0.17，and its absolute value is less than 0.3，indicating no correlation. The M（Q1，Q3） and 99.5th percentile of 17α-OHP level in preterm infants were significantly higher than those in full-term infants（Z=-52.52，P=0.000），and the M（Q1，Q3） and 99.5th percentile of 17α-OHP level in low-weight infants were significantly higher than those in infants with normal weight（Z=-36.45，P=0.000）. Conclusion It is recommended to adjust the cut-off value of 17α-OHP based on gestational age for neonates in Sichuan region and modify the cut-off value of 17α-OHP screening as 28.5 nmol/L for preterm infants and 13.0 nmol/L for full-term infants.

Key words

congenital adrenal hyperplasia / gestational age / 17 α-hydroxyprogesterone / cut-off value

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Yang Lijuan , Zhou Jingyao , Ou Mingcai , et al . Preliminary exploration of 17 α-hydroxyprogesterone cut-off value for neonatal congenital adrenal hyperplasia screening using a genetic screening processor in Sichuan region of China. Journal of Chongqing Medical University. 2024, 49(09): 1201-1204 https://doi.org/10.13406/j.cnki.cyxb.003584

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