[Possibility of progesterone as the diagnostic biomarker of 21-hydroxylase deficiency].

ABSTRACT

Objective: To explore the diagnostic value of progesterone in 21-hydroxylase deficiency (21-OHD). Methods: One hundred and ninety-three patients (female 127, male 66) with 21-OHD were recruited at Peking Union Medical College Hospital between January and December 2015. At the same time, 253 patients (female 162, male 91) with other disease were included as control, and their sex hormone and 17-OHP were measured simultaneously. The correlation between 17-alpha-hydroxyprogesterone (17-OHP) and progesterone was analyzed and the probability of progesterone as the diagnostic biomarker of 21-OHD was determined. Results: There was obvious positive correlation between progesterone and 17-OHP levels in subjects with different age and gender, and the correlation coefficient was from 0.775 to 0.878 (all P<0.001). Receiver operating characteristic curve (ROC) analysis showed that the area under curve was from 0.930 to 1.000 (all P<0.001) when using progesterone as the diagnostic biomarker. Conclusions: Obvious positive correlation exists between progesterone and 17-OHP in patients with 21-OHD. The measurement of progesterone can be an assistant method for the diagnosis of 21-OHD.