PCOS: Genetic, Environmental and Metabolic Determinants

In 1935, Stein and Leventhal first investigated Polycystic ovary syndrome (PCOS) in seven women suffering from amenorrhea, hirsutism, and enlarged ovaries with multiple cysts. In the early 1990s, the formal diagnostic criteria were proposed in a conference on PCOS.

With PCOS being one of the most prevalent menstrual disorders in women of the reproductive age group and a leading cause of infertility, women are bound to wonder – “why does this happen?” Scientists and doctors have now proven PCOS as a multifactorial, partly genetic condition influenced by various environmental, metabolic, and lifestyle factors.

Genetic Component

The genes related to PCOS can be grouped into four categories: those involved in insulin resistance, those that interfere with androgen production, those that encode inflammatory cytokines, and other candidate genes.

Pérez MS et al. published a study which states that the genes coding for the enzymes involved in ovarian androgen biosynthesis played a minor role in the pathophysiology of PCOS. These include the CYP17 and the CYP11α genes which code for 17-α-hydroxylase (P45017α) and the cholesterol side-chain cleavage (P450scc) respectively. However, more studies are necessary to define the concrete genetic basis.

Familial clustering has been also seen in the case of PCOS, giving a stronger reason to suspect a genetic component behind the disease. The risk of developing PCOS increases significantly when women in the immediate and extended family also have a history of reproductive disorders.

Environmental and Lifestyle Factors

The main environmental factors involved in the pathophysiology of PCOS include environmental toxins, socioeconomic status (SES), and geography.

An association between low childhood SES and PCOS was established, particularly among those who later achieve high personal education and especially for obese women in this category. A significant relationship has been found between a sedentary lifestyle and BMI with the severity of PCOS symptoms.

Dr. Ricardo Azziz published a study which states that smoking, snoring, plastic tableware usage, and indoor decoration comes with an increased risk for ovulatory dysfunction in PCOS patients.

Metabolic components

Metabolic stress is believed to be an important component of PCOS. It exacerbates the reproductive, metabolic, and psychological manifestations of the syndrome, leading to an endless cycle of chronic illness.

Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinemia, and insulin resistance. Insulin resistance is linked to PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Insulin resistance and the associated hyperinsulinemia can lead to the reproductive features of PCOS. However, hyperandrogenism, in turn, can impair insulin action, directly and/or through several changes occurring in different tissues. Obesity and increased body fat can contribute to the worsening of this vicious cycle.

More recent studies have emphasized cardiovascular disease risk factors and found disturbances in carbohydrate metabolism in patients with PCOS compared to the healthy population.

Preventive Strategies

  • Healthy lifestyle interventions with preventing excess weight gain comprise the primary intervention for all comorbidities.
  • Early identification of women who are at risk for PCOS and those with PCOS is a priority.
  • Extensive guidelines for provider and patient education aim to decrease the medical, psychosocial, and economic burdens attributable to PCOS and its associated comorbidities.


Rupali Sachdev

Rupali Sachdev is an intern doctor at Grant Medical College and Sir JJ Group of Hospitals in Mumbai. With experience in writing, design, medical technology, public speaking, and social service, she believes that doctors need to broaden their horizons and look at patient care more holistically.

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