Letter to the Editor From de Zegher and Ibáñez: “Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts” - Takeaways - MDSpire
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Correspondence from de Zegher and Ibáñez: “Uncommon LMNA Variation Contributes to the Development of Polycystic Ovary Syndrome in Two Distinct Cohorts”

  • By

  • Francis de Zegher

  • Lourdes Ibáñez

  • January 2, 2025

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  • 1

    Variations in the LMNA gene are rare causes of polycystic ovary syndrome (PCOS) linked to insulin resistance and lipodystrophy.

  • 2

    Bauer et al's study highlights the prevalence of pathogenic LMNA variants in women with PCOS and low body mass index.

  • 3

    PCOS variants due to obesity are linked to increased lipogenesis, while those without obesity are associated with reduced adipogenesis.

  • 4

    Diagnosis of lipodystrophy-related PCOS has significant treatment implications, differing from typical PCOS management.

  • 5

    Women with LMNA-related PCOS without obesity may benefit from adipogenesis-enhancing treatments like pioglitazone.

Original Source(s)

Letter to the Editor From de Zegher and Ibáñez: “Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts”

  • by Francis de Zegher, Lourdes Ibáñez

  • January 2, 2025

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