PCOS: What We Know and What Remains a Mystery

Benan Demir Allan

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Stardust Labs

Discussing an unknown subject can be challenging, especially when it’s difficult to provide evidence for its existence. However, this is not the case with Polycystic Ovarian Syndrome (PCOS), which has existed as long as humanity itself. Despite this, PCOS remains one of the most underdiagnosed and misunderstood health conditions.

Historically, references to PCOS date back centuries. In 1721, Italian scientist Vallisneri described a married woman with infertility who had shiny ovaries resembling pigeon eggs, which suggests a connection to PCOS【1】. In 1844, Dr. Achille Chereau wrote about "acute ovaritis of the first degree," offering a detailed description of polycystic ovaries. He noted that "the ovaries are enlarged, elastic, and have a smooth, shiny surface, containing many small cysts located at the periphery of the organ"【2】. This early work has set the stage for some major research in the field【3】 .

The most well-known description of PCOS came in 1935, when American gynecologists Irving Stein and Michael Leventhal provided the first detailed and systematic characterization of the syndrome. They were the first to connect key symptoms—irregular menstruation, infertility, and the presence of ovarian cysts—into a unified diagnosis. Stein and Leventhal also approached PCOS from an endocrine perspective, emphasizing the role of hormonal health in women. This work helped establish PCOS as a recognized medical condition, rather than a series of unrelated symptoms (4).

No Two People Experience PCOS the Same Way

The complexity of PCOS lies in its wide range of symptoms, with no two women experiencing the condition in exactly the same way. This variability often leads to PCOS being undiagnosed or misdiagnosed. According to the National Institutes of Health (NIH), it’s estimated that up to 70% of women with PCOS remain undiagnosed worldwide (5).

Common Symptoms of PCOS

Missed or irregular periods
Very light periods
Enlarged ovaries with multiple cysts
Excess body hair (hirsutism) on areas like the chest, stomach, and back
Weight gain (especially around the abdomen)
Acne or oily skin
Thinning hair
Fertility challenges

Less common symptoms can include:

Insomnia
Mood changes
High blood pressure
Sleep apnea
Fatty liver
Eating disorders

Public Awareness & Lack of Standardized Diagnostics

One of the primary reasons PCOS remains so underrecognized is the lack of public awareness. Unlike other conditions, PCOS rarely makes headlines or receives attention in mainstream media. This lack of visibility contributes to its continued mystery. The need for research is vital—not only to improve diagnosis but to work towards a cure. This is precisely why PCOS is often labeled as 'unknown.' As noted in an article from August 21, 2024, "Research has shown that genetic and environmental factors contribute to the development of PCOS, but its exact cause remains unknown" (6).

There isn’t just one test to diagnose PCOS–and the lack of standardization is a big contributor to why PCOS continues to be misdiagnosed and underdiagnosed. Typically, a combination of symptoms, lab tests, and physical examinations are needed to determine a diagnosis. Using a period tracking app (like Stardust!) to keep track of any symptoms or irregularities can help. At Stardust, one of our biggest goals is to combine relevant symptoms and help our users identify their own recurrent health trends.

What are the biggest findings for the possible causes for PCOS?

Insulin Resistance

Multiple studies have examined insulin sensitivity in women with PCOS (7)(8)(9)(10). Of those studies investigating this correlation, approximately 50-70% found a link between insulin resistance and PCOS, while the remaining studies did not (11). Unfortunately, this inconsistency leaves the research on the connection between insulin resistance and PCOS still quite unclear.

Genes

Recent studies indicate that there are 21 potential gene changes that may increase the risk of developing PCOS (12). One such genetic factor is the (TTTTA)n polymorphism in the promoter region, which is associated with PCOS. Research has shown that polymorphisms in the CYP11A1 gene can act as a risk marker for the condition. The risk of developing PCOS rises when genetic factors interact with environmental influences (13).

Exposure to Chemicals

Chemicals such as bisphenol A (BPA) and phthalates can interfere with hormonal functions. These substances are commonly found in plastics and personal care products. Exposure to endocrine-disrupting chemicals (EDCs) has been associated with a higher risk of developing PCOS (14).

Obesity

Obesity is frequently discussed in various journal articles, highlighting ongoing debates in the field. A significant finding is that individuals with a family history of type 2 diabetes are at a greater risk of developing PCOS. Compounding this issue is the fact that 9.5% of adults worldwide already have type 2 diabetes. When considering factors such as prediabetes, obesity, sedentary lifestyle, and genetic predisposition, it is estimated that up to 40% of the global adult population may be at an increased risk for developing type 2 diabetes.

PCOS can manifest through various reasons and symptoms, but the exact causes and treatments remain unclear. At Stardust, we prioritize research to enhance our understanding of symptoms, viewing them not just as checkboxes but as unique characteristics of our users’ health journeys. One of our primary missions is to help women identify traits of PCOS early, before they reach the infertility treatment stage, so they can take charge as soon as those symptoms start showing up.

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