Genetic markers of polycystic ovarian syndrome: A descriptive review

Document Type

Article

Publication Date

10-1-2026

Department

Department of Kinesiology and Integrative Physiology

Abstract

Polycystic ovary syndrome (PCOS) is a multifaceted endocrine disorder affecting women of reproductive age worldwide, characterized by a spectrum of symptoms, including irregular menstrual cycles, hyperandrogenism, and polycystic ovarian morphology. The etiology of PCOS is complex, involving both genetic and environmental factors. Among the genetic substances indicated in PCOS are DENND1A and THADA, which have been associated with altered ovarian function and hypersecretion of androgen, while FSHR and LHCGR variants influence follicular development and hormonal imbalances. Moreover, variation in the INSR gene influences insulin resistance, glucose metabolism and may play a role in the pathogenesis of diabetes mellitus. YAP1 variants are linked to increased androgen levels, while C9orf3's role, although less understood, has been linked with hormonal regulation. Understanding the implications of these genetic markers goes beyond the diagnosis of PCOS. They may offer valuable insights into PCOS phenotypes and help to categorize patients based on their genetic profiles and guide personalized treatment approaches. Additionally, variations in genetic markers across different populations underscore the importance of considering ethnic diversity in PCOS research and clinical practice. However, translating genetic findings into clinical practice poses challenges and limitations. The predictive value of genetic markers in the diagnosis of PCOS is not yet absolute, and their roles in the intricate web of PCOS etiology remain multifaceted. Nonetheless, ongoing research promises a deeper understanding of these genetic markers and their clinical significance, offering hope for more effective PCOS management in the future. This review explores the genetic markers associated with PCOS, with emphasis on the intricate interplay of genetic variations in the diagnosis, pathogenesis, and treatment of this condition.

Publication Title

Clinica E Investigacion En Ginecologia Y Obstetricia

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