New Study Suggests 2 Gene-Based Subtypes of Polycystic Ovarian Syndrome

An NIH news release shared that a study on polycystic ovarian syndrome (polycystic ovary syndrome or PCOS) discovered that the condition might have two distinct subtypes based on genetic mutations. Through this analysis, researchers determined that patients with reproductive PCOS differed in biomarkers compared to those with metabolic PCOS. Find the full study published in PLOS Medicine.

Study Findings

Originally, researchers began the study to determine if there were distinct subtypes of PCOS. Prior to this, diagnostic criteria focused more on the condition itself than potential subsets. To begin, researchers analyzed:

quantitative anthropometric, reproductive, and metabolic traits [from] 893 PCOS cases…[which were later] replicated in an independent, ungenotyped cohort of 263 PCOS cases.

Patient ages ranged from 25 to 33, with an average body mass index (BMI) between 35.4-35.7. Researchers analyzed patient genes, BMI, and glucose, insulin, and hormone levels. Through this, they discovered two subtypes, both of which were associated with specific genetic mutations:

  • Reproductive polycystic ovarian syndrome: 23% of patients fell into this subtype. Those with reproductive PCOS generally had lower insulin levels and a lower body mass index. However, they had higher levels of luteinizing hormone (LH) and sex hormone binding globulin (SHBG), which play a role in ovarian regulation and hormone transportation.
  • Metabolic polycystic ovarian syndrome: This group, of around 37%, tended to have higher body mass index, glucose levels, and insulin levels. However, they had lower levels of LH and SHBG.

The remaining 40% of women had more genetic mutations linked to PCOS, suggesting that a 3rd distinct subtype may exist. Additionally, researchers discovered that those with DENND1A mutations were more likely to have reproductive PCOS.

In the future, understanding and recognizing these unique subtypes could help researchers create more targeted, personalized PCOS treatments.

Polycystic Ovarian Syndrome (PCOS)

Polycystic ovarian syndrome (PCOS) is a hormonal disorder characterized by enlarged ovaries with cysts growing on them. Ovaries may develop follicles and will usually not release the normal amount of eggs, leading to delayed or irregular periods. Those with polycystic ovarian syndrome also often have high levels of androgens, a type of male hormone. The condition is thought to affect up to 15% of reproductive-age women.

Prior to this study, doctors were not aware of the exact cause of PCOS. Now, the study narrowed down how genetic variants result in different subtypes of polycystic ovarian syndrome.

Symptoms, which normally appear around the start of puberty, include:

  • Weight gain and difficulty losing weight
  • Facial hair or excess hair in different areas of the body
  • Male-pattern baldness
  • Irregular periods
  • Eating disorders
  • Infertility
  • Severe acne
  • Sleep apnea
  • Heart disease
  • Gestational diabetes or Type II diabetes
  • Premature birth or miscarriage
  • Nonalcoholic steatohepatitis (NASH)
  • Abnormal uterine bleeding
  • Depression and anxiety
  • Endometrial cancer

Learn more about polycystic ovarian syndrome.


Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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