Advances in application of 21-deoxycortisol in the diagnosis and monitoring of 21-hydroxylase deficiency / 国际儿科学杂志

ABSTRACT

With the whole life involvement，21-hydroxylase deficiency（21-OHD）affects the quality of life，and the death rate of salt wasting form is high，thus the timely diagnosis and standardized treatment are needed. Traditionally，17-hydroxyprogesterone（17-OHP）is an indicator for screening，diagnosis and monitoring of 21-OHD. However，17-OHP has some limitations，such as high false-positive rate in neonatal screening，high fluctuation，and interference of puberty and menstrual cycle，etc. Therefore，attempts have been made to find better indicators to help guide clinical practice. Recently，several studies have suggested that 21-deoxycortisol（21-DF）may be a more specific marker for 21-OHD，which has the following advantages：no elevation is observed in premature infants or patients with other forms of congenital adrenal hyperplasia，and the blood sample timing doesn't affect the detection of 21-DF；21-DF is a reliable diagnostic marker of non-classical 21-OHD；adrenal gland is the only source of 21-DF. Therefore，this article reviews the limitations of 17-OHP and the relative advantages of 21-DF.