PCOS - Deconstructing the Diagnosis

PCOS stands for polycystic ovary syndrome and is a complex condition characterized by abnormally high amounts of androgens (like testosterone), which leads to a plethora of downstream, whole-body effects.

It is the most common endocrine (hormonal) disorder among women of reproductive age (premenopausal women), affecting 1 in 10 women. However, most of them don’t know they have it, with up to 70% of women remaining undiagnosed worldwide. 

It is the most common cause of anovulatory infertility (the inability to get pregnant due to not ovulating) and is associated with a variety of bothersome symptoms, as well as serious and long-term health problems, affecting mental, emotional, and physical wellbeing. 

PCOS is considered a ‘syndrome’ as well as a ‘diagnosis of exclusion,’ since the diagnosis is based on a set of specific symptoms and the absence of other conditions that could be causing these symptoms, respectively. Let’s get deconstructing…

There are 3 diagnostic criteria for PCOS and 2 out of 3 are needed for an official diagnosis: 

High androgen levels (aka hyperandrogenism) - required criteria  

• This is based on lab testing OR signs/symptoms

  • What does this look like? It may appear as symptoms including acne or oily skin, excess hair growth in unwanted places (hirsutism), or male-pattern hair loss (androgenic alopecia) - hallmark symptoms of PCOS

  • What does this mean? The development of physical male traits indicate that androgens (or male-dominant sex hormones including testosterone, DHEAS, androstenedione, and DHT) are too high in the body, which can be confirmed with lab testing  

  • Why does this happen? A genetic defect causes aromatase, an enzyme that converts testosterone to estrogen in the ovary, to be “sluggish” (sluggish aromatase = low estrogen + high testosterone), the adrenal glands can also be a source of high androgens

Ovulatory dysfunction (aka oligoanovulation) 

• This is based on menstrual history 

  • What does this look like? It may appear as irregular or absent menstrual cycles (typically, periods more than 35 days apart, less than 8 periods per year, or no periods at all)

  • What does this mean? Abnormal menstrual/ovulatory patterns indicate that the ovaries aren’t releasing eggs (aka ovulating) every month or at all, which can be confirmed with lab testing  

  • Why does this happen? High testosterone blocks follicles, fluid filled sacs containing an immature egg, from maturing in the ovary so ovulation does not occur (high testosterone = immature follicles = no ovulation)

Polycystic ovaries (aka polycystic ovary morphology or PCOM) 

• This is based on a pelvic imaging (e.g. transvaginal ultrasound scan) 

  • What does this look like? It may appear as a “string of pearls” on imaging from the cysts forming along the outer ovary, or as an oversized ovary from the accumulation of cysts   

  • What does this mean? Cysts on the ovaries are a sign/symptom of PCOS, not a cause, and they are not necessarily harmful but rather indicate that ovulation is not occurring normally 

  • Why does this happen? When ovulation does not occur, numerous immature follicles form in the ovaries and accumulate over time (no ovulation = polycystic ovaries, irregular periods, infertility) 

• This is where the name PCOS comes from but it isn’t entirely accurate since not all women with PCOS have polycystic ovaries

***Note, any one of these criteria may warrant further testing to rule out other serious conditions, for example endocrine or adrenal tumors which can look like PCOS in the case of high androgens.*** 

If you have hyperandrogenism with irregular periods and/or polycystic ovaries, then you have PCOS. Yet it's not as clear cut as it seems, PCOS can look very different in every woman, since there is a lot of room for variability across all aspects of this syndrome. 

This can make diagnosing PCOS difficult. In fact, it can take more than 2 years for some women to be diagnosed with PCOS and nearly half of women see at least 3 different health professionals before receiving a diagnosis. 

Reasons why PCOS is underdiagnosed or misdiagnosed:

• PCOS is still a poorly understood condition that lacks research

• Symptoms of PCOS can vary widely and have multiple potential causes

• Symptoms of PCOS are often treated (suppressed) without further evaluation 

• Women with PCOS face healthcare challenges such as sexism and stigmatization

Reasons why a diagnosis of PCOS is important:

• To know if you have it and if it is the cause of certain symptoms or health problems

• To determine how severe it is and how it's manifesting in your unique body

• To start treatment as early as possible and reduce the risk of complications 

• To direct the most effective and individualized treatment possible

The diagnosis of PCOS may involve a combination of medical history, physical exam, lab testing, and pelvic imaging. Although there is no 1 diagnostic test for PCOS. Unfortunately, even the diagnostic criteria is controversial and thus diagnostic standards are inconsistent. 

The diagnostic criteria for PCOS is not perfect but it’s the best we’ve got at this time. Here are some things to keep in mind:

• Not all 3 criteria are required for a diagnosis of PCOS

  • There can be several different possible “versions” of PCOS 

• Each of the 3 criteria can differ significantly in severity 

  • 1+ criteria can be present but not necessarily meet the threshold for a PCOS diagnosis (who is to say this person shouldn’t be treated for PCOS?)

• The criteria does not fully explain the causes and contributing factors of PCOS 

  • There is a lot more here and it will be discussed in a future blog

If you suspect you have PCOS, it’s important to be evaluated and diagnosed by a licensed healthcare provider. Because of how common it is, how serious it can be, and how many women are unaware they have it, every woman with menstrual problems, fertility issues, or hormonal symptoms should be worked up for PCOS. 

ANAMARIA Natural Medicine is a functional and naturopathic clinic dedicated to helping women blossom into abundant health by addressing health and hormone imbalances at their root using natural, evidence-based, and wholistic approaches. For personalized care, get started by scheduling a free discovery call. 

Written by Dr. Jordan Valdez, ND, RD

Contact Information: (Telemedicine Only)

Social: @anamaria.naturalmedicine

Email: connect@anamarianaturalmedicine.com 

Website: www.anamarianaturalmedicine.com

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References:

WHO, Endocrine Society, OASH, Journal of Clinical Endocrinology & Metabolism, Androgen Excess & PCOS Society, PMID: 36980421