Malinak L R, Buttram V C, Elias S, Simpson J L
Am J Obstet Gynecol. 1980 Jun 1;137(3):332-7.
Clinical characteristics of patients with histologically confirmed pelvic endometriosis who had an affected first-degree relative (N = 18) were compared to those who had no such affected relative (N = 105). The only significant difference was that 61% of individuals in the former group had severe endometriosis, compared to only 24% in the latter group. This observation is most consistent with a polygenic/multifactorial etiology, although other genetic mechanisms cannot be excluded. Our observations carry several important practical implications. First, an apparently unaffected patient with an affected first-degree relative should be counseled that her risk of developing endometriosis is 7%. This might influence the choice of contraception, the timing of pregnancy, and the extent to which aggressive diagnostic approaches (e.g., laparoscopy and curettage) would be appropriate.
将经组织学确诊为盆腔子宫内膜异位症且有患病一级亲属的患者（N = 18）的临床特征，与没有此类患病亲属的患者（N = 105）的临床特征进行了比较。唯一显著的差异是，前一组中有61%的个体患有重度子宫内膜异位症，而后一组中只有24%。这一观察结果最符合多基因/多因素病因，尽管不能排除其他遗传机制。我们的观察结果具有几个重要的实际意义。首先，对于一位有患病一级亲属但表面上未患病的患者，应告知其患子宫内膜异位症的风险为7%。这可能会影响避孕方法的选择、怀孕时机以及积极诊断方法（如腹腔镜检查和刮宫术）的适用程度。
