Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

    October 2024 in “ Scientific Reports ”
    Shrinjana Dhar, Pritha Bhattacharjee
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    TLDR Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
    This study investigates the genetic basis of polycystic ovarian syndrome (PCOS) in both lean and obese individuals, using clinical-exome sequencing on 2 participants. It identifies 26,550 variants, with specific variants linked to PCOS in lean and obese phenotypes. Key findings include the role of leptin signaling impairment, insulin resistance, and mutations in genes such as CYP1A1, CYP19A1, and ESR1. The study highlights the importance of early diagnosis and personalized treatment, particularly in young women in West Bengal, India, who may experience co-occurring conditions like estrogen resistance and T2DM, with obesity as a common trait.
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