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

polycystic ovary syndrome PCOS high-throughput sequencing genetic variants INSR LMNA PIK3R1 DLK1 insulin resistance genetic screening genetic testing

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.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

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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3 / 3 results

Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria

research Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria

308 citations , December 2018 in “PLOS Genetics”

This study identified three novel genetic loci associated with PCOS and found similar genetic architecture across different diagnostic criteria, with evidence suggesting genetic links between PCOS and various metabolic and psychological traits.

research Comprehensive Overview of Polycystic Ovary Syndrome

883 citations , August 2016 in “Nature Reviews Disease Primers”

This review discusses the current understanding of polycystic ovary syndrome, focusing on its epidemiology, pathophysiology, diagnosis, management, and future research directions, but reports no new clinical results.

research Health Care-Related Economic Burden of Polycystic Ovary Syndrome During the Reproductive Life Span

414 citations , August 2005 in “The Journal of Clinical Endocrinology and Metabolism”

This study estimates the total cost of evaluating and treating polycystic ovary syndrome in reproductive-aged women in the United States to be $4.36 billion, suggesting more liberal screening could be beneficial.