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 … Larissa Gomes
    Studysummary This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.
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    Research cited in this study 3

    1. Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria PLOS Genetics · 2018
    2. Comprehensive Overview of Polycystic Ovary Syndrome Nature Reviews Disease Primers · 2016
    3. Health Care-Related Economic Burden of Polycystic Ovary Syndrome During the Reproductive Life Span The Journal of Clinical Endocrinology and Metabolism · 2005

    Related research 1

    1. Screening for Diabetes in Women with Polycystic Ovary Syndrome Canadian Medical Association Journal · 2007