Urinary Steroidomic Profiles by LC-MS/MS to monitor Classic 21-Hydroxylase Deficiency

Publication date: Available online 26 November 2019Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Eric Pussard, Simon Travers, Claire Bouvattier, Qiong-Yao Xue, Claudine Cosson, Say Viengchareun, Laetitia Martinerie, Marc LombèsABSTRACT21-hydroxylase deficiency, the most common enzyme defect associated with congenital adrenal hyperplasia (CAH) is characterized by an impairment of both aldosterone and cortisol biosynthesis. Close clinical and biological monitoring of Hydrocortisone (HC) and 9α-Fludrocortisone (FDR) replacement therapies is required to achieve an optimal treatment. As frequent and repeated reassessments of plasma steroids, 17-hydroxyprogesterone (17-OHP), androstenedione (Δ4-A) and testosterone (TESTO) is needed in childhood, urine steroid profiling could represent an interesting non-invasive alternative.We developed and validated a LC-MS/MS method for the measurement of 23-urinary mineralocorticoids, glucocorticoids and adrenal androgens. The usefulness of steroid profiling was investigated on single 08h00 am-collected spot urine for discriminating between 61 CAH patients and their age- and sex-matched controls. CAH patients were split into two groups according to their 08h00 am-plasma concentrations of 17-OHP: below (controlled patients, n = 26) and above 20 ng/mL (uncontrolled patients, n = 35).The lower limit of quantification and the wide analytical range allows to assay both free and total concentrations of the ma...
Source: The Journal of Steroid Biochemistry and Molecular Biology - Category: Biochemistry Source Type: research