Urinary steroid profiling in women hints at a diagnostic signature of the polycystic ovary syndrome: A pilot study considering neglected steroid metabolites.

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Version: Final published version
Serval ID
serval:BIB_7E1032F0E418
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Urinary steroid profiling in women hints at a diagnostic signature of the polycystic ovary syndrome: A pilot study considering neglected steroid metabolites.
Journal
PloS one
Author(s)
Dhayat N.A., Marti N., Kollmann Z., Troendle A., Bally L., Escher G., Grössl M., Ackermann D., Ponte B., Pruijm M., Müller M., Vogt B., Birkhäuser M.H., Bochud M., Flück C.E.
Working group(s)
members of the SKIPOGH Study Group
ISSN
1932-6203 (Electronic)
ISSN-L
1932-6203
Publication state
Published
Issued date
2018
Peer-reviewed
Oui
Volume
13
Number
10
Pages
e0203903
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Abstract
Although the polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women with vast metabolic consequences, its etiology remains unknown and its diagnosis is still made by exclusion. This study aimed at characterizing a large number of urinary steroid hormone metabolites and enzyme activities in women with and without PCOS in order to test their value for diagnosing PCOS.
Comparative steroid profiling of 24h urine collections using an established in-house gas-chromatography mass spectrometry method. Data were collected mostly prospectively. Patients were recruited in university hospitals in Switzerland. Participants were 41 women diagnosed with PCOS according to the current criteria of the Androgen Excess and PCOS Society Task Force and 66 healthy controls. Steroid profiles of women with PCOS were compared to healthy controls for absolute metabolite excretion and for substrate to product conversion ratios. The AUC for over 1.5 million combinations of metabolites was calculated in order to maximize the diagnostic accuracy in patients with PCOS. Sensitivity, specificity, PPV, and NPV were indicated for the best combinations containing 2, 3 or 4 steroid metabolites.
The best single discriminating steroid was androstanediol. The best combination to diagnose PCOS contained four of the forty measured metabolites, namely androstanediol, estriol, cortisol and 20βDHcortisone with AUC 0.961 (95% CI 0.926 to 0.995), sensitivity 90.2% (95% CI 76.9 to 97.3), specificity 90.8% (95% CI 81.0 to 96.5), PPV 86.0% (95% CI 72.1 to 94.7), and NPV 93.7% (95% CI 84.5 to 98.2).
PCOS shows a specific 24h urinary steroid profile, if neglected metabolites are included in the analysis and non-conventional data analysis applied. PCOS does not share a profile with hyperandrogenic forms of congenital adrenal hyperplasias due to single steroid enzyme deficiencies. Thus PCOS diagnosis by exclusion may no longer be warranted. Whether these findings also apply to spot urine and serum, remains to be tested as a next step towards routine clinical applicability.
Keywords
Adolescent, Adult, Case-Control Studies, Early Diagnosis, Female, Gas Chromatography-Mass Spectrometry, Humans, Metabolomics/methods, Middle Aged, Pilot Projects, Polycystic Ovary Syndrome/diagnosis, Polycystic Ovary Syndrome/metabolism, Polycystic Ovary Syndrome/urine, Prospective Studies, Sensitivity and Specificity, Steroids/urine, Young Adult
Pubmed
Web of science
Open Access
Yes
Create date
17/10/2018 10:40
Last modification date
20/08/2019 15:39
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