Abstract
BackgroundAlthough 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.MethodsComparative 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.ResultsThe 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).ConclusionPCOS 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.
Highlights
Polycystic ovary syndrome (PCOS) affects about 10% of women and may have major reproductive and metabolic consequences [1,2,3]
The best combination to diagnose polycystic ovary syndrome (PCOS) contained four of the forty measured metabolites, namely androstanediol, estriol, cortisol and 20βDHcortisone with area under the curve (AUC) 0.961, sensitivity 90.2%, specificity 90.8%, PPV 86.0%, and NPV 93.7%
PCOS shows a specific 24h urinary steroid profile, if neglected metabolites are included in the analysis and non-conventional data analysis applied
Summary
Polycystic ovary syndrome (PCOS) affects about 10% of women and may have major reproductive and metabolic consequences [1,2,3]. Current criteria for diagnosing PCOS by the Androgen Excess and PCOS Society comprise one, androgen excess by clinical and/or biochemical means, and two, ovulatory dysfunction and/or polycystic ovaries by morphology, under the exclusion of other etiologies [1,2]. Elevated serum androgens and increased AMH and LH levels may be found, but to date there is no reliable diagnostic laboratory test for diagnosing PCOS [1,2]. 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.
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