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

The study focused on identifying steroid hormone biomarkers in plasma to diagnose P450 oxidoreductase deficiency (PORD) in congenital adrenal hyperplasia patients. Using liquid chromatography–tandem mass spectrometry, researchers measured 19 steroid hormones in 9 clinically diagnosed PORD patients (3 males, 6 females). Results showed significant increases in plasma levels of pregnenolone, 17-hydroxyprogesterone, corticosterone, 11-deoxycorticosterone, 11-deoxycortisol, and 21-deoxycortisol in PORD patients compared to controls. Male patients exhibited significantly lower levels of androstenedione, testosterone, dihydrotestosterone, dehydroepiandrosterone sulfate, and estradiol, while female patients showed significant differences in dihydrotestosterone and dehydroepiandrosterone sulfate levels. The study concluded that these hormones and the testosterone to dihydrotestosterone ratio are crucial markers for diagnosing PORD.