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

    September 2021 in “ Research Square (Research Square)
    Huiying Sun, Shenggen Hou, Xujing Kong, Xiaomin Fan, Zheng Zhai, Yanhua Zheng, Baorong Chen
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    Studysummary This study found that measuring specific steroid hormone levels can aid in diagnosing P450 oxidoreductase deficiency, a subtype of congenital adrenal hyperplasia, by distinguishing affected patients from healthy individuals. Our plain-language summary of this paper — not a Tressless recommendation.
    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.
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