title: LC-MS/MS improves screening towards 21-hydroxylase deficiency.
abstract: Basal serum 17OHP measurement remains the first screening step for nonclassic congenital adrenal hyperplasia (NCCAH) and the accuracy of the test is of high value. The aim of this study was to compare the accuracy of immunoassays to LC-MS/MS in the assessment of serum 17OHP and androgens concentration in women with hyperandrogenism and controls. 17OHP, total testosterone, androstendione and DHEA-S were measured in 39 women with clinically and/or biochemically evident hyperandrogenism and in 29 age-matched controls without clinical hyperandrogenism. 17OHP and androgens were measured by immunoassays and by LC-MS/MS. In patients group median 17OHP level measured by immunoassays was significantly higher compared to LC-MS/MS (5.49 nmol/l-ELISA NovaTec® and 3.57 nmol/l-ELISA DRG® versus 1.56 nmol/l-LC-MS/MS p < 0.0001) as well as in the control group (2.58 nmol/l-ELISA DRG® versus 1.14 nmol/l-LC-MS/MS p < 0.0001). Additional, unnecessary diagnostic procedures explaining elevated 17OHP level were undertaken in 85% of patients when NovaTec® test was used, in 50% when ELISA DRG® and in none when LC-MS/MS method was applied. Total testosterone, androstendione and DHEA-S concentrations in the patients and the controls assessed by the immunoassays were also significantly higher compared to LC-MS/MS. LC-MS/MS is more reliable diagnostic tool in the measurement of serum 17OHP and androgens concentrations compared to immunoassays in women with hyperandrogenism.
authors.affiliation: Department of Internal Medicine and Endocrinology, Medical University of Warsaw , Warsaw , Poland .
authors.forename: Urszula
authors.initials: U
authors.lastname: Ambroziak
authors.forename: Anna
authors.initials: A
authors.lastname: Kępczyńska-Nyk
authors.forename: Alina
authors.initials: A
authors.lastname: Kuryłowicz
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Wysłouch-Cieszyńska
authors.forename: Ewa Maria
authors.initials: EM
authors.lastname: Małunowicz
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Bartoszewicz
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kondracka
authors.forename: Radosław
authors.initials: R
authors.lastname: Jaźwiec
authors.forename: Emilia
authors.initials: E
authors.lastname: Pawłowska
authors.forename: Magdalena
authors.initials: M
authors.lastname: Szcześniak
authors.forename: Michał
authors.initials: M
authors.lastname: Dadlez
authors.forename: Tomasz
authors.initials: T
authors.lastname: Bednarczuk
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis*; D000328:Adult; D000735:Androstenedione / Q000097:blood; D002851:Chromatography, High Pressure Liquid; D019314:Dehydroepiandrosterone Sulfate / Q000097:blood; D003937:Diagnosis, Differential; D005189:False Positive Reactions; D005260:Female; D006785:Hospitals, University; D006801:Humans; D007118:Immunoassay; D011044:Poland; D011933:Reagent Kits, Diagnostic; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D053719:Tandem Mass Spectrometry; D013739:Testosterone / Q000097:blood; D055815:Young Adult
chemical_list: D011933:Reagent Kits, Diagnostic; D013739:Testosterone; D000735:Androstenedione; D019314:Dehydroepiandrosterone Sulfate; D019326:17-alpha-Hydroxyprogesterone
keywords: Hyperandrogenism; immunoassays; liquid chromatography/mass spectrometry; nonclassic congenital adrenal hyperplasia