Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
In: Journal of endocrinological investigation, Jg. 43 (2020-10-01), Heft 10, S. 1499-1509
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Zugriff:
Objective: We aimed at defining the most effective routine immunoassay- or liquid chromatography-tandem mass spectrometry (LC-MS/MS)-determined steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency (21-NCAH) in a PCOS-like population before genotyping.
Methods: Seventy PCOS-like patients in reproductive age with immunoassay-determined follicular 17OH-progesterone (17OHP) ≥ 2.00 ng/mL underwent CYP21A2 gene analysis and 1-24 ACTH test. Serum steroids were measured by immunoassays at baseline and 60 min after ACTH stimulation; basal steroid profile was measured by LC-MS/MS.
Results: Genotyping revealed 23 21-NCAH, 15 single allele heterozygous CYP21A2 mutations (21-HTZ) and 32 PCOS patients displaying similar clinical and metabolic features. Immunoassays revealed higher baseline 17OHP and testosterone, and after ACTH stimulation, higher 17OHP (17OHP 60 ) and lower cortisol, whereas LC-MS/MS revealed higher 17OHP (17OHP LC-MS/MS ), progesterone and 21-deoxycortisol and lower corticosterone in 21-NCAH compared with both 21-HTZ and PCOS patients. Steroid thresholds best discriminating 21-NCAH from 21-HTZ and PCOS were estimated, and their diagnostic accuracy in identifying 21-NCAH from PCOS was established by ROC analysis. The highest accuracy was observed for 21-deoxycortisol ≥ 0.087 ng/mL, showing 100% sensitivity, while the combination of 17OHP LC-MS/MS ≥ 1.79 ng/mL and corticosterone ≤ 8.76 ng/mL, as well as the combination of ACTH-stimulated 17OHP ≥ 6.77 ng/mL and cortisol ≤ 240 ng/mL by immunoassay, showed 100% specificity.
Conclusions: LC-MS/MS measurement of basal follicular 21-deoxycortisol, 17OHP and corticosterone seems the most convenient method for diagnosing 21-NCAH in a population of PCOS with a positive first level screening, providing high accuracy and reducing the need for ACTH stimulation test.
| Titel: |
Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
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| Autor/in / Beteiligte Person: | Oriolo, C ; Fanelli, F ; Castelli, S ; Mezzullo, M ; Altieri, P ; Corzani, F ; Pelusi, C ; Repaci, A ; Di Dalmazi, G ; Vicennati, V ; Baldazzi, L ; Menabò, S ; Dormi, A ; Nardi, E ; Brillanti, G ; Pasquali, R ; Pagotto, U ; Gambineri, A |
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| Zeitschrift: | Journal of endocrinological investigation, Jg. 43 (2020-10-01), Heft 10, S. 1499-1509 |
| Veröffentlichung: | 2014- : Berlin : Springer ; <i>Original Publication</i>: Milano, Published for the Italian Society of Endocrinology by Editrice Kurtis., 2020 |
| Medientyp: | academicJournal |
| ISSN: | 1720-8386 (electronic) |
| DOI: | 10.1007/s40618-020-01235-3 |
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