Reproductive Endocrinology And Infertility Clinical Training Program

子宫平滑肌瘤是女性生殖道最常见和最普遍的疾病之一，也是一种遗传性疾病，如遗传性平滑肌瘤病（Hereditary Leiomyomatosis）和肾细胞癌（Renal Cell Cancer，HLRCC）。为了了解与HLRCC相关的平滑肌瘤相关的细胞事件是否与普通或非综合征型平滑肌瘤相似，在过去的一年中，我们使用基因谱实验来比较两种类型的平滑肌瘤。我们发现，虽然这两种类型的平滑肌瘤有低水平的延胡索酸水合酶，有一个显着的过度表达糖酵解酶在HLRCC综合征平滑肌瘤相比，普通平滑肌瘤。我们用实时逆转录PCR证实了这些基因的过度表达。有趣的是，糖酵解酶的过度表达在整个糖酵解途径中是一致的，除了一个HLRCC标本中的磷酸甘油酸激酶。我们解释的结果表明，糖酵解途径上调HLRCC平滑肌瘤，而克雷布斯循环功能减弱，由于低水平的富马酸水合酶。简而言之，这些结果表明，虽然罕见综合征相关的平滑肌瘤可能在物理上类似于常见的非综合征型平滑肌瘤，但肿瘤之间存在显著差异。 子宫内膜异位症的诊断对患者和供应商来说都是一个问题，因为需要手术，但一个持续的问题是手术时子宫内膜异位症病变的出现。在过去的一年里，Stratton和Stegmann博士将活检结果与病变外观相关联，以确定最可能代表子宫内膜异位症的病变特征。结果表明，与流行观点相反，没有一个单一的colot与子宫内膜异位症有很高的相关性，对子宫内膜异位症妇女手术的外科医生应该考虑和活检任何可疑的病变。具体来说，细微病变几乎与黑色或混合色病变一样可能包含子宫内膜异位症。总体而言，最有可能包含病理学证实的疾病的病变是那些宽度> 10 mm且深度> 5 mm的病变。然而，经验丰富的外科医生只能在64%的时间内正确识别病变。这项研究表明，活检，而不是目视检查，应该仍然是疾病诊断的金标准。 许多妇女在生殖健康方面存在差距。我们的单位一直有兴趣研究这些差异的原因和后果，努力制定战略，以优化各种族和族裔群体的生殖结果。一个被证实的健康差异是不孕症治疗的结果。最近我们发现，非裔美国妇女子宫平滑肌瘤的不同发病率至少部分解释了辅助生殖妊娠结局的减少。在过去的一年中，我们评估了西班牙裔夫妇的ART使用和结果。这项研究表明，与一些人声称的经济障碍是利用率较低的原因相反，其他因素也是原因之一。在未来的一年里，我们计划启动一项多中心试验，以评估不孕不育服务的差异和利用。

Uterine leiomyoma, commonly called fibroids, are one of the most common and prevalent diseases of the female reproductive tract.Some leiomyoma are associated with rare genetic syndromes, such as Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). In order to learn whether the cellular events associated with HLRCC-associated leiomyoma resembled common or nonsyndromic leiomyoma, in the past year we used gene profiling experiments to compare the two types of leiomyoma. We found that while both types of leiomyoma had low levels of fumarate hydratase, there was a significant overexpression of glycolysis enzymes in the HLRCC-syndromic leiomyoma compared to common leiomyoma. We confirmed overexpression of these genes with real-time reverse-transcriptase PCR. Interestingly, overexpression of the glycolysis enzymes was consistent throughout the glycolysis pathway, with the exception of phosphoglycerate kinase in one HLRCC specimen. We interpret the findings to suggest that the glycolysis pathway is up-regulated in HLRCC leiomyoma, whereas the Krebs cycle function was diminished due to the low levels of fumarate hydratase. In short, these results indicate that while leiomyoma associated with rare syndromes may physically resemble common nonsyndromic leiomyoma, there are marked differences between the tumors. Diagnosis of endometriosis represents a problem for patients and providers since surgery is required, but one persistent question is the appearance of endometriosis lesions at surgery. In the past year Drs. Stratton and Stegmann correlated biopsy result with lesion appearance in order to determine the characteristics of lesions most likely to represent endometriosis. The results showed that, in contrast to prevailing opinion, no single colot had a high association with endometriosis and that surgeons operating on women with endometriosis should consider and biopsy any suspicious lesion. Specifically, subtle lesions were nearly as likely to contain endometriosis as were those that were black or of mixed colors. Overall, the lesions most likely to contain pathologically-confirmed disease were those that were >10mm in width and >5mm in depth. However, experienced surgeons were only able to correctly identify lesions 64% of the time. This study suggests that biopsy, not visual inspection, should remain the gold standard for disease diagnosis. Reproductive health disparities exist for many women. Our unit has been interested in examining the causes and consequences of these disparities in an effort to devise strategies to optimize reproductive outcome across racial and ethnic groups. One health disparity idenfied was outcome of infertility treatments. Recently we found that the different incidence of leiomyoma in African-American women explained, at least in part, reduction in pregnancy outcome with assisted reproduction. In the past year we evaluated ART utilization and outcome among Hispanic couples. This study suggested that contrary to claims of some that economic barriers accounted for lower rates of utilization, other factors were responsible. In the coming year we plan to initiate a multicenter trial to assess disparities and utilization of infertility services.