https://orcid.org/0000-0002-2491-5884
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Francis de Zegher, Lourdes Ibáñez, Letter to the Editor From de Zegher and Ibáñez: “Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts”, The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 5, May 2025, Pages e1709–e1710, https://doi.org/10.1210/clinem/dgae905
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Bauer et al (1) are to be lauded for elaborating on their previous evidence (2) that variations in LMNA (the gene encoding lamin A/C) are among the rare causes of polycystic ovary syndrome (PCOS). Loss-of-function mutations in LMNA are causes of a partial lipodystrophy with a deficit of subcutaneous adipose tissue in the gluteal region and the limbs, with an excess of fat in other subcutaneous depots and in ectopic locations, and with insulin resistance (3).
In 2008, Gambineri et al concluded their manuscript on LMNA-related PCOS (4) by suggesting that “assessment of insulin sensitivity and adipose tissue topography should be a key part of the initial evaluation of patients with PCOS.” It is unfortunate that Bauer et al could not include assessments of body composition (by dual X-ray absorptiometry) and/or estimates of ectopic fat in liver and viscera (by magnetic resonance imaging) in the phenotyping of their 1529 PCOS cases from 2 cohorts with different diagnostic criteria.
