High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

    July 2022 in “ Journal of the Endocrine Society ”
    Raiane P Crespo, Thaís Rocha, Luciana Ribeiro Montenegro, Mirian Yumie Nishi, Alexander A L Jorge, Gustavo Arantes Rosa Maciel, Edmund Chada Baracat, Ana Cláudia Latronico, Berenice B. Mendonca, Larissa Gomes
    TLDR Some women with PCOS have rare genetic variants linked to the condition.
    The study utilized high-throughput sequencing to identify rare genetic variants in a cohort of 53 women with polycystic ovary syndrome (PCOS). It found that 18.8% of the cases had rare genetic variants potentially linked to PCOS, including pathogenic and likely pathogenic variants in genes such as INSR, LMNA, PIK3R1, and DLK1. The findings suggest a genetic basis for PCOS in a subset of patients, particularly those with severe insulin resistance, and highlight the importance of genetic screening in understanding and managing the condition.
    Discuss this study in the Community →

    Research cited in this study

    3 / 3 results

    Related Community Posts Join

    6 / 12 results

      community C’est terrible - at my wits end

      in Female  446 upvotes 10 months ago
      A 29-year-old woman is experiencing gradual hair thinning since age 15, suspects Androgenic Alopecia, and has tried 5% minoxidil with little success. She has purchased various hair loss treatments including minoxidil, dutasteride, finasteride, and spironolactone, but is cautious about starting them due to potential interactions with her ADHD medication.

      community Female, 30, PCOS diagnosis, MPB Norwood 2. Endo refuses to give anything other than Spironolactone. Feel like I’m at my wit’s end here.

      in Female  57 upvotes 10 months ago
      A 30-year-old female with PCOS and male pattern baldness is frustrated with her endocrinologist's recommendation of only Spironolactone and minoxidil, feeling that dutasteride, finasteride, and progesterone would be more effective. Other users suggest various online sources for treatments, warn against self-medicating due to potential risks, and recommend seeking a specialized endocrinologist or considering additional treatments like Inositol, Berberine, and dermaneedling.

      community How does hair loss and recovery work?

      in Chat  12 upvotes 1 month ago
      Hair loss varies due to genetic sensitivity to DHT and other factors. Treatments discussed include finasteride, minoxidil, RU58841, and microneedling.

      community Why balding gets worse in every generation?

      in Chat  81 upvotes 3 months ago
      Balding seems to worsen with each generation, possibly due to stress, diet, and environmental factors. The user started treatments like Minoxidil and finasteride.

    Related Research

    1 / 1 results