ABSTRACT Polycystic ovary syndrome (PCOS) is a common disorder with a high phenotypic variability. Frequently, it is associated with a mild to moderate insulin resistance (IR) caused by an interaction between polygenic diathesis and the environment. However, PCOS may be a complication of an underlying syndrome of severe IR such as insulin receptor autoantibodies, mutations in the insulin receptor or in the signalling pathway downstream from the insulin receptor or, most frequently, a defect in function or in the development of the subcutaneous adipose tissue. Such conditions are clinically characterized by lipodystrophy. Lipodystrophy in some cases is produced by a single-gene defect. In our experience, PCOS secondary to a missense mutation in the LMNA gene, known as familial partial lipodystrophy type 2 (FPLD2), is the most frequent form of PCOS secondary to severe IR due to genetically determined lipodystrophy. These forms should be identified as they benefit from tailored therapies.

中文翻译：

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家族性部分脂肪代谢障碍 2 型 (FPLD2) 中的多囊卵巢综合征：基本和临床方面

摘要 多囊卵巢综合征（PCOS）是一种具有高度表型变异性的常见疾病。通常，它与由多基因素质和环境之间的相互作用引起的轻度至中度胰岛素抵抗 (IR) 相关。然而，PCOS 可能是严重 IR 的潜在综合征的并发症，例如胰岛素受体自身抗体、胰岛素受体或胰岛素受体下游信号通路中的突变，或者最常见的是功能缺陷或发育缺陷。皮下脂肪组织。此类病症的临床特征为脂肪代谢障碍。在某些情况下，脂肪代谢障碍是由单基因缺陷引起的。根据我们的经验，多囊卵巢综合征继发于 LMNA 基因的错义突变，称为家族性部分脂肪代谢障碍 2 型 (FPLD2)，由于遗传决定的脂肪代谢障碍，继发于严重 IR 的 PCOS 是最常见的形式。应确定这些形式，因为它们受益于量身定制的疗法。