Study on Changes of 19 Steroids in Plasma From 9 Diagnosed Patients With P450 Oxidoreductase Deficiency

Purpose: Diagnostic of congenital adrenal hyperplasia (CAH) patients with P450 oxidoreductase deficiency (PORD) subtype is a difficult task as biochemical monitoring criteria is not well defined. For the identification of steroid hormone biomarkers in plasma to diagnose PORD. Methods: Study of the steroid hormone metabolic pathway, a novel method for the determination of 19 steroid hormone were established based on liquid chromatography–tandem mass spectrometry (LC-MS/MS). The measurement of 19 steroid hormones in plasma samples of clinical patients and normal reference population was carried out. A total of 9 clinically diagnosed patients (3 males, 6 females) with PORD were enrolled in the study. Results: In 9 patients with PORD, plasma pregnenolone, 17-hydroxyprogesterone, corticosterone, 11-deoxycorticosterone, 11-deoxycortisol, and 21-deoxycortisol, were significantly (P<0.001) increased when compared with those of the normal control group at the initial diagnosis of PORD. The concentrations of androstenedione, testosterone, dihydrotestosterone, dehydroepiandrosterone sulfate and estradiol in male patients with PORD were significantly (P<0.001) lower than those in control group. There were significant (P<0.001) differences between the female patients with PORD and the control group in the concentration of dihydrotestosterone and dehydroepiandrosterone sulfate. Conclusion: Pregnenolone, 17-hydroxyprogesterone, corticosterone, 11-deoxycorticosterone, 11-deoxycorticosteroid, 21-deoxycorticosteroid, androstenedione, testosterone, dihydrotestosterone, dehydroepiandrosterone, estradiol, and the ratio of testosterone to dihydrotestosterone are important markers in the diagnosis of PORD.