New study uncovers genetic links between testosterone regulation and polycystic ovary syndrome, shedding light on the role of androgens in PCOS development. Study: Unveiling the shared genetic architecture between testosterone and polycystic ovary syndrome . Image Credit: Kittyfly/Shutterstock.
com In a genome-wide, cross-trait study published in Scientific Reports , researchers from China investigated the potential genetic association and polygenic overlap between polycystic ovary syndrome (PCOS) and testosterone (T)-related traits. They found a significant genetic overlap between PCOS and T-related traits, identified shared causal variants, and suggested that androgen abnormalities influence PCOS through genes, including FSHB (beta subunit of the follicle-stimulating hormone). Background PCOS is a common endocrine disorder affecting 6–20% of women of reproductive age.
It is characterized by three main features: hyperandrogenism (HA), ovulatory dysfunction (OD), and polycystic ovarian morphology (PCOM). The 1990 criteria from the National Institutes of Health defined PCOS based on HA and OD, while PCOM was additionally included in the 2003 Rotterdam criteria. Hyperandrogenism is now seen as a key factor driving PCOS, linked to ovulatory issues, metabolic dysfunction, insulin resistance, and excess fat accumulation.
T, a key androgen in women, plays a pivotal role in the disorder, with free T and bioavailable T being critical markers of HA in clinical d.