The Diagnosis of Polycystic Ovary Syndrome: The Criteria Are Insufficiently Robust for Clinical Research

Julian H. Barth; Ephia Yasmin; Adam H. Balen


Clin Endocrinol. 2007;67(6):811-815. 

In This Article

Summary and Introduction

Polycystic ovary syndrome (PCOS) is a common disorder but has considerable phenotypic variability and this has led to controversy over its exact definition and diagnosis. The objective of this study was to review the recently proposed diagnostic criteria to determine whether they were sufficiently robust for clinical and research practise. We have reviewed the literature pertaining to clinical measurement and quality of laboratory analysis in relation to clinical and biochemical hyperandrogenism. The recently published statements regarding the diagnosis of PCOS assume that the clinical, laboratory and imaging studies are dichotomous variables, without considering the effect of observer subjectivity or measurement variability on the outcome. The data suggest that there is considerable uncertainty of all measurements and lack of clarity of the definition of the term ‘hyperandrogenaemia' which can lead to misdiagnosis. The current diagnostic strategies for PCOS are defined too vaguely to ascertain that individuals fit the definition of the syndrome. A pragmatic approach may be taken in the management of an individual depending upon her particular symptoms and needs. However, research into the epidemiology, pathophysiology and treatment of PCOS will require the production of robust definitions of the diagnostic criteria. We propose specific criteria that would answer the criticisms that we have raised.

The evolution of the polycystic ovary syndrome (PCOS) has followed a typical career in medical folklore. Initially there were the case reports, then a brief case series and after an appropriate gestation came the recommendations, guidelines and consensus statements. However, as the spectrum and the implications of the syndrome have become better understood, so the poorly defined margins of the syndrome have led to a degree of unravelling of the consensus, not to mention confusion amongst gynaecologists and endocrinologists.[1]

The original case series of Stein and Leventhal described seven women with two apparent phenotypes, all of whom had enlarged polycystic ovaries and amenorrhoea.[2] Over the years, this has been distilled down to a definition that encompasses chronic anovulation and hyperandrogenism after all other causes of irregular menses had been excluded. This definition reached a consensus supported by the National Institutes of Health (NIH) in 1990 even though in Europe and Australasia ovarian imaging had become an important component in the diagnosis, largely because ovarian morphology was part of the original disease description. Despite a high degree of concordance between the NIH consensus and the European addition of ovarian imaging, it became necessary to try to gain transatlantic harmony with a new consensus held under the auspices of the European Society for Human Reproduction and Embryology and the American Society for Reproductive Medicine (ESHRE/ASRM) which resulted in what are known as the Rotterdam criteria.[3]

The proposal agreed in Rotterdam was that PCOS should be diagnosed on the basis of the presence of two out of the following three features: oligo- or anovulation, clinical and/or biochemical hyperandrogenism and polycystic ovaries. This has therefore created the possibility of several phenotypes and the recognition that PCOS is a syndrome with heterogeneity in its constellation of features. This has led to some disagreement[4,5] and a series of studies considering the phenotypes of PCOS that have been added to the syndrome which have had the effect of increasing the patient base by a factor of approximately 20%[6] compared with the NIH consensus and is more in line with European prevalence data.[7] Indeed, there has been a subsequent position statement from the Androgen Excess Society trying to bond the NIH and Rotterdam positions.[8] It is generally recognized that the Rotterdam consensus criteria now include women with PCOS who have a milder disease and are also less likely to be overweight[6] (see Table 1 ).

We feel that a major aspect of PCOS that has not been given adequate emphasis is in the metrics of the diagnostic characteristics. Although these are well known, are they sufficiently defined so as to be the anchors for diagnosis? Are they repeatable, robust and sufficiently reliable to allow data from one study to be compared with another? We believe they are not.


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