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.
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