In 2008, it was estimated that 1.4 million Canadian women suffer from polycystic ovary syndrome (PCOS) (1) indeed making it the most common endocrine disorder in women of child-bearing age.
A thorough medical work-up is necessary to either diagnose or exclude PCOS, and this involves taking a thorough history, physical exam, lab work and ultrasound. Useful markers to assess by blood on day 3 of the women’s menstrual cycle (for women who are menstruating with some regularity), include the gonadotropins LH and FSH, sex steroid hormones estradiol, progesterone and testosterone and cardiovascular markers, such as hs-CRP, ESR, fasting glucose and lipid profiles. Further, testing cortisol and DHEAs levels are useful in determining adrenal involvement in PCOS as described here.
A pelvic or transvaginal ultrasound is necessary to determine the presence of cysts on the ovaries.
There has been difficulty establishing and still controversy exists over the diagnostic criteria for PCOS. While PCOS was initially described as a cluster of symptoms including amenorrhea, hirsutism, obesity and polycystic ovaries, it has since been recognized that not all of these criteria must be present for a woman to receive a PCOS diagnosis. The Rotterdam criteria, which were initially proposed in 2003, and are perhaps currently the most widely accepted criteria for PCOS diagnosis, state that a patient must demonstrate any two of the following three criteria:
- Oligo- or chronic anovulation
- Clinical and/or biochemical signs of hyperandrogenism
- Polycystic ovaries by ultrasound (PCO)
Thus a woman who has regular menstrual periods, but who demonstrates cysts on her ovaries and also has androgenic acne or facial hair growth may receive the same diagnosis as a woman who does not undergo regular menstrual cycling and has cysts on her ovaries, despite having no signs of high levels of androgens. The aforementioned example has lead to some debate among clinicians and researchers, and has even led to revamped guidelines in 2006, by the Androgen Excess Society, known as the AE-PCOS Criteria, which state that a patient must in fact, demonstrate hirsutism or hyperandrogenemia, in order to receive a true diagnosis of PCOS.
Recognizing that PCOS is a spectrum disorder, has led to a new way of categorizing women with PCOS, based on their clinical presentation, or phenotype. This categorization has also allowed researchers to understand the “severity” of PCOS in any given patient, and to further our understanding of possible long-term complications associated with each category.
Four Clinical PCOS Phenotypes
The four major clinical phenotypes of PCOS can be described as follows:
- Frank PCOS (hyperandrogenism, oligo/anovulation, PCO)
- Classic PCOS (hyperandrogenism and chronic anovulation)
- Ovulatory PCOS (hyperandrogenism and PCO)
- Mild PCOS (anovulation and PCO).
Early diagnosis and intervention in PCOS is imperative, since there is a growing body of evidence to suggest that women with PCOS are at an increased risk of a variety of other health complications, namely infertility, type II diabetes, cardiovascular disease, non-alcoholic fatty liver disease, depression, obstructive sleep apnea and certain cancers (1). Strategies to support women with PCOS include dietary and lifestyle modifications, stress management, exercise, nutritional supplementation or medications, if deemed appropriate. Adequate follow-up up the PCOS patient is important to monitor the evolution of this condition throughout her lifetime and to screen for the possibility of other long-term health sequelae.
In summary, establishing a diagnosis of PCOS can be tricky, especially given the varying criteria that are commonly used. A thorough medical history and evaluation involving both ultrasound and bloodwork form the basis necessary to establish a diagnosis. It is up to the skill of the practitioner to not only thoroughly evaluate the patient and formulate a correct diagnosis, but further to educate the patient on the potential challenges faced by women with PCOS, including the potential for more imminent long-term health sequelae associated with this condition.
- Lugan ME, Chizen DR, Pierson RA. Diagnostic Criteria for Polycystic Ovary Syndrome: Pitfalls and Controvversies. J Obstet Gynaecol Can 2008;30(8):671-9.