Introduction
Polycystic ovary syndrome (PCOS) is a medical condition that affects 7â20% of women, depending on the diagnostic criteria used (Day et al. 2018). Elevated testosterone levels, or âhyperandrogenismâ, is âperhaps the most consistent and obvious diagnostic feature of PCOSâ (Farrell and Antoni 2010, p. 1566), occurring in 60â80% of women with PCOS, depending on the diagnostic criteria. Diagnostic features of PCOS are elevated testosterone (by blood test, or clinical presentation of acne, or hirsutism), menstrual irregularity (nine or fewer periods per year), and multiple cysts on the ovaries.
PCOS is a syndrome, and may be associated with several conditions, though rarely are more than a few present in any one woman with PCOS. Apart from the diagnostic features, other features often seen in PCOS are obesity, insulin resistance (potentially leading to type 2 diabetes), and less commonly male-pattern balding, and dark patches of skin discolouration (acanthosis nigricans). Longer-terms consequences may be endometrial cancer (Barry et al. 2014) and slightly increased cardiovascular risk (Anderson et al. 2014). Most of the problems in PCOS are due to elevated testosterone (hyperandrogenism) and insulin levels (hyperinsulinemia), and it is worth noting that the elevated testosterone is probably due to elevated insulin (Tsilchorozidou et al. 2004).
Research suggests that psychological issues, especially anxiety and depression, are more common in PCOS than in healthy women (Barry et al. 2011). The exact cause of these issues is complex, but is likely to be at least in part due to the distressing symptoms of PCOS.
The estimated annual healthcare cost of PCOS in the UK is at least ÂŁ237 million (Ding et al. 2018), with most of these costs being associated with direct and indirect aspects of diabetic care. A similar costing has not been conducted for the US recently, but Azziz (2005) estimated the annual cost at $4.36 billion, with 40% of that cost being associated with diabetes. Because obesity is a key factor in the development of diabetes, especially in PCOS (Sam 2007), reduction of obesity should be a key target for anyone interested in PCOS.
There can be little doubt that it is distressing to have a condition like PCOS. Typical symptoms are fertility problems, excess hair growth (hirsutism), acne, and weight gain (Escobar-Morreale 2018). Given that testosteroneâoften called the âmale sex hormoneââis one of the key features of PCOS, and that testosterone has a masculinising effect on women (and men), it is little wonder that the title of an early paper on PCOS was âThe Thief of Womanhoodâ (Kitzinger and Willmott 2002). As well as the impact on femininity, a woman diagnosed with PCOS also needs to take on board the longer-term risks of type 2 diabetes, endometrial cancer, and cardiovascular disease. Patients sometimes complain that there is a lack of professional help, support, and research, which can lead to a sense that they are, according to one small study, âwalking around blindfoldedâ (Busby and Simpson 2019). Itâs no wonder that some women worry excessively after being diagnosed with PCOS (Azziz 2014), but as we will see in this book not everything about PCOS is inevitably gloomy.
The remainder of this chapter will outline what PCOS is, and what we know of the causes. In one way this is a logical place to start a book on PCOS, but there are two caveats here. Firstly, those interested in the psychological aspects of PCOS will find this first chapter, being focused on technical and physiological aspects of PCOS, less relevant. On the other hand, anyone interested in understanding the psychological aspects of PCOSâfor themselves or for patientsâshould be aware of some of the basic issues. Secondly, any readers can be forgiven for finding the lack of consensus regarding diagnosis, and the lack of certainty regarding the cause of PCOS, somewhat unrewarding to read about. All readers might take comfort in the recent evidence that, despite the lack of consensus and certainty, we can be pretty sure that there is a genetic reality to PCOS, as shown by the shared underlying genetic basis that is not rigidly bound by diagnostic criteria and phenotype (Day et al. 2018).
Phenotypes of PCOS: Definitions and Controversies About Diagnoses
Although polycystic ovaries were first described by Italian scientist Vallisneri in 1721 (Szydlarska et al. 2017), it was largely forgotten until the 1930s, and then renamed after its rediscoverers as Stein-Leventhal syndrome. Even then, it still wasnât until the invention of the ultrasound scanner in the 1980s and consensus of diagnosis in the early 1990s that PCOS was recognised on a wider scale in women of reproductive age.
When attempting to diagnose with precision something that is complex, it is important that we first clearly define what it is we are trying to diagnose. PCOS is today seen as a heterogeneous syndrome where a range of symptoms may be present or absent, and may overlap with other conditions. In their influential paper, Hunter and Sterrett state that PCOS âis perhaps best viewed as a spectrum of symptoms, pathologic findings and laboratory abnormalitiesâ (Hunter and Sterrett 2000, paragraph 10). PCOS can be difficult to conceptualise, even for experts, as shown by the fact that there have been several different ways of diagnosing it over the years. The issue remains somewhat confusingânot least because you donât need to have polycystic ovaries to have a diagnosis of PCOSâbut I will try to make it as simple as possible below.
Identifying types, or more specifically phenotypes (observable physiological characteristics created by the genes and environment), is a complex task because there appears to be a range of expression of PCOS. Diamanti-Kandarakis et al. (2006) note that one of the problems of research in this area is that there is not simply one type of PCOS, and genes for one type (e.g. obese/anovulatory) may not contribute to the development of another (e.g. lean/ovulatory). In other words, the fact that there are several overlapping phenotypes makes it difficult to identify the underlying genotype(s).
The first widely accepted diagnostic criteria for PCOS was by the Zawadski and Dunaif (1992). This required two criteria for diagnosis: oligoovulation (eight or fewer periods per year) and androgen excess (clinical or biochemical). Subsequently an expanded set of criteria emerged, which included the presence of polycystic ovaries (multiple small cysts on the ovaries, seen using an ultrasound scan) as one of the criteria. Although its inclusion no doubt adds face validity, polycystic ovaries are not a necessary condition...