The PCOS Puzzle: Its Origins and Future

       PCOS—Polycystic Ovary Syndrome has long been viewed as a hormonal disorder affecting women of reproductive age but it is still being researched. And recent findings from physicians such as Jia Zhu and her colleagues indicate that PCOS is part of a broader metabolic and reproductive disorder. Findings suggest that genetic risk factors can be detected as early as childhood which would be beneficial in the management and treatment of this disease (Covino-Deaso, 2025).

        There is research shown that children of women with PCOS have had a negative metabolic impact of the syndrome. This includes but is not limited to higher risk of obesity and insulin resistance. Zhu used a polygenic risk score (PRS) to identify the association between PCOS and genetics and found that a higher PRS was associated with obesity, type 2 diabetes, coronary artery disease and androgens alopecia. The higher PRS and symptoms can be viewed in children as early as 6 years old and more importantly before puberty. This suggests that PCOS may not be hormonal or at the very least independent of the typical ovarian association. 

      PCOS symptoms include fatigue, low sex drive, fluctuation in weight, excessive body hair, and ovarian cysts. There is an error in communication between the hypothalamus, pituitary gland and ovaries, as we know to be a negative feedback loop. Due to a dysfunction of this HPO axis the luteinizing hormone (LH) is in excess (La Marca & Indefrey, 2020). LH is involved in the ovulation cycle and its hormonal balance is what leads to the natural progression of ovulation, followed by the luteal phase and then back to the follicular phase. 

     We should use genetics to our benefit and research these markers. This could possibly increase the number of PCOS cases as those with PCOS are often misdiagnosed or undiagnosed because there is not a definitive diagnostic test. Black and Hispanic women are impacted most by PCOS as they are at a higher morbidity due to cardiovascular disease and diabetes as high risk factors in the population. There is something to be said about the access to proper care and diagnoses of PCOS within these communities due to explicit bias in health care (Engmann et al., 2017). In a perfect world justice and beneficence would be used to make such a test available to everyone regardless of race and socioeconomic background. A delaying of proper diagnoses leaves individuals in the lurch—not possibly receiving a diagnoses until their symptoms become severe and obvious. 

References 

Covino-Deaso, L. (2025, May 27). Rethinking polycystic ovary syndrome. Boston Children’s Hospital. https://answers.childrenshospital.org/rethinking-polycystic-ovary-syndrome/

Engmann, L., Jin, S., Sun, F., Legro, R. S., Polotsky, A. J., Hansen, K. R., Coutifaris, C., Diamond, M. P., Eisenberg, E., Zhang, H., Santoro, N., & Reproductive Medicine Network (2017). Racial and ethnic differences in the polycystic ovary syndrome metabolic phenotype. American journal of obstetrics and gynecology, 216(5), 493.e1–493.e13. https://doi.org/10.1016/j.ajog.2017.01.003 

La Marca, A., & Indefrey, J. (2020). Polycystic ovary syndrome. In StatPearls [Internet]. StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK459251/