RTI International, Research Triangle Park, NC USA.
Front Genet. 2014 Sep 8;5:300. doi: 10.3389/fgene.2014.00300. eCollection 2014.
Recently, research has indicated an increased risk for greater medical and emotional comorbidity and physical health symptoms among women with an FMR1 expansion. However, these studies have generally been limited in their ability to model multiple risk factors associated with these symptoms by small numbers (n = 112-146) of participants. This study used survey methodology to examine the health experiences of 458 adult women with the premutation with and without a history of a fragile X primary ovarian insufficiency (FXPOI) diagnosis. Results suggest similar findings to those reported in the literature with regard to the frequency of medical, emotional, and reproductive experiences of women with the premutation. In addition to expected reproductive differences, women with a diagnosis of FXPOI were also more likely to experience dizziness, nausea, and muscle weakness than women without a diagnosis of FXPOI. Women with and without FXPOI were more likely to have used reproductive assistance and were more likely to have experienced preeclampsia during at least one pregnancy than is reported in the general population. Having comorbid depression and anxiety was predictive of increased medical conditions and increased daily physical health symptoms.
最近的研究表明，携带 FMR1 扩展的女性患更多医学和情感共病以及身体健康症状的风险增加。然而，这些研究通常受到参与者数量较少（n=112-146）的限制，无法对与这些症状相关的多种风险因素进行建模。本研究采用问卷调查方法，调查了 458 名携带 FMR1 前突变且有或无脆性 X 原发性卵巢功能不全（FXPOI）诊断史的成年女性的健康状况。结果表明，与文献中报道的情况相似，携带前突变的女性在医学、情感和生殖方面的经历频率相似。除了预期的生殖差异外，患有 FXPOI 诊断的女性比没有诊断为 FXPOI 的女性更容易出现头晕、恶心和肌肉无力等症状。患有和未患有 FXPOI 的女性更有可能使用生殖辅助技术，并且在至少一次怀孕中更有可能经历子痫前期，这一比例高于一般人群。患有共病性抑郁和焦虑症与更多的医疗状况和更多的日常身体健康症状相关。
