Application of the steroid profiling detecting by LC-MS/MS in the diagnosis of primary aldosteronism

Objective To explore the characteristics of steroid hormone spectrum in patients with primary aldoste- ronism (PA) and to evaluate the diagnostic efficacy of 18-oxocortisol and 18-hydroxycortisol. Methods Fifty-nine PA patients including 41 cases of aldosterone-producing adenoma (APA) and 18 cases of idiopathic hyperaldosteronism (IHA)and 42 essential hypertension (EH) patients as control group diagnosed in Department of Endocrinology of Peking Union Medical College Hospital from November 2020 to November 2021 were enrolled in this study. The basic information and clinical characteristics of patients were collected and 8 kinds of steroid hormones,including mineral corticoids (pregnenolone,progesterone, 11-deoxycorticosterone, corticosterone, 18-OH-corticoster-one) and aldosterone, and metabolites 18-oxocortisol as well as 18-hydroxycortisol were detected by liquid chromatography-tandem mass spectrometry(LC-MS/MS).The differences of steroid hormone level from different groups were compared and their diagnostic efficacy was evaluated. Results The average level of progesterone in APA group was higher than that in EH group (P＜0.05). The average level of 11-deoxycorticosterone in APA and IHA group was higher than that in EH group (both P＜0.001). The average level of 18-OH-corticosterone in APA group was higher than that in EH group (P＜0.001). The average level of aldosterone in APA and IHA group were higher than that in EH group(P＜0.01). The average level of 18-oxocortisol in APA group was higher than that in IHA group and higher than that in EH group (all P＜0.05). The average level of 18-hydroxycortisol in APA group was higher than that in EH group (P＜0.001). As for the diagnostic efficiency of 18-oxocortisol and 18-hydroxycortisol differentiating PA from EH, when the cut-off value of 18-oxocortisol was 0.06 ng/mL, the sensitivity reached 74.6% with specificity as 88.1%; when the cut-off value of 18-hydroxycortisol was 1.44 ng/mL, the sensitivity was 71.2% and the specificity was 69.0%. As for the diagnostic efficiency of 18-oxocortisol and 18-hydroxycortisol recognizing APA, when the cut-off value of 18-oxocortisol was 0.11 ng/mL, the sensitivity was 73.2% and the specificity was 95.2%; when the cut-off value of 18-hydroxycortisol was 1.77 ng/mL, the sensitivity was 68.3% and the specificity was 78.6%. Conclusions The level of various steroid hormone precursors and metabolites in PA patients is significantly higher than those in EH patients. The detection of steroid hormone profiling by LC-MS/MS plays an important role in the diagnosis and typing of PA. In particular, 18-oxocortisol and 18-hydroxycortisol show unique advantages in the recognition of APA.