Advances in application of 21-deoxycortisol in the diagnosis and monitoring of 21-hydroxylase deficiency
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.
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