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A New Understanding of PCOS

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A New Understanding of PCOS

Sep 08, 2015

Polycystic ovary syndrome (PCOS) is the leading cause of infertility in reproductive age women. A new study reveals genetic changes that lead to PCOS, findings that are helping to explain why the disorder occurs. Endocrinologist Corrine Welt, MD, a clinician at the Utah Diabetes Center, describes what the study shows and what it might mean for women with the condition.

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    主人和客人表达的所有想法和观点都是他们自己的,并不一定反映他们所属机构的观点.

     


    PCOS and Infertility

    Interviewer: Research that's giving us a new understanding of PCOS, the most common cause of infertility in women, up next on The Scope. I'm talking with Dr. Corinne Welt, 生殖内分泌学教授,犹他大学犹他糖尿病中心的临床医生.

    Dr. Welt, 我必须承认,在我开始研究你的工作之前,我没有听说过多囊卵巢综合征, 事实证明,这实际上是育龄妇女不孕的主要原因. Is that correct?

    Dr. Welt: Yes, it's a very common disorder found in one in ten reproductive age women. It's very underdiagnosed and typically is found by women who have irregular menstrual cycles, and any sign of excessive androgen levels, so high testosterone levels or signs such as increased hair growth on the face or abdomen, belly or too much adrenal androgen hormone.

    Challenges in Diagnosing PCOS

    Interviewer: And from what I understand, the diagnosis of PCOS is actually somewhat controversial, 不同的女性表现不同,所以很难说谁真的有,谁没有. Do I have that right?

    Dr. Welt: I think rather than controversial, I think it's under-recognized. 因为月经周期不规律而不孕不育的患者会去看生殖内分泌学家,这肯定是一个因素. The polycystic ovary syndrome is associated with a high risk of diabetes, so some patients will present to endocrinology. There is an under-recognition of the irregular menstrual cycles in general in medicine, because it's not often asked about. So I think a lot of women go undiagnosed.

    Genetics of PCOS

    Interviewer: And so you worked with a research team to look at the genetics behind PCOS, what are some of the underlying genetic causes of this disorder. Why did you decide to take that approach?

    Dr. Welt: Well, polycystic ovary syndrome has been known since the 1930s, but we really don't understand the cause of polycystic ovary syndrome, and we and others have spent many, many decades looking at the physiology, trying to figure out what is the starting point for PCOS. So we decided to take a genetics approach about 15 years ago, and we have been working on this for quite some time.

    大发娱乐发现有几种不同的风险基因与多囊卵巢综合征有关. Some of these appear to have a relationship to the pituitary gland, which is something that we've known for a long time but put on the side. It didn't seem to be the most important thing, 但我认为这是导致多囊卵巢综合征的重要原因之一. 有一些基因似乎与产生雄激素的能力有关所以睾丸激素水平可能与某些基因有关, 然后肯定有一些与糖尿病重叠,所以它们可能控制胰岛素抵抗多囊卵巢综合征.

    So as far as we know, these three big categories are probably separate, and there are other genes, actually, 在这些研究中发现的甚至可能有其他病因或大发娱乐还不能确定的多囊卵巢综合征的其他原因. They're not totally clear so we do have things in the three big pathways, the androgens, the pituitary gland and the insulin resistance, 但肯定还有其他的原因大发娱乐还不完全清楚,可能有其他原因导致多囊卵巢综合征. We hope that in the end, 病人可能属于一个不同的子类别,这可能更容易把他们分成不同的组,这样大发娱乐就知道他们多囊症的原因是什么, and what treatment would work best for them.

    Impact of Weight and Environmental Factors

    Interviewer: 在这个特殊的研究中,大多数女性是属于这些类别之一,还是在这三种基因上有差异的人之间平分?

    Dr. Welt: Each of these gene regions control the risk in about, I would say, 10% to 30% of patients. So some patients will have more than one, and some patients will have just one, and some patients won't have any. 如果你有基因变异你就一定会得多囊症,这并不是硬性的. 可能还有其他因素,比如环境因素或体重增加也可能导致多囊卵巢综合征.

    Interviewer: Okay, and so that might help explain why PCOS might look differently in different women?

    Dr. Welt: Absolutely, and we even know that women who have PCOS and gain weight actually get much worse. They can get much worse menstrual cycle irregularities. They tend to get more metabolic syndrome problems and more risk for diabetes. 所以大发娱乐肯定知道体重增加会使问题恶化,这是一个例子.

    Pituitary Hormone-Related Gene Insights

    Interviewer: 所以也许大发娱乐可以把重点放在其中一个基因上,那个与垂体激素有关的基因. Is that right?

    Dr. Welt: That's right.

    Interviewer: Hormones. Now that you have that information, what can you do with it? 它如何大发娱乐你思考如何对待这些女性或者你以后可能会做什么?

    Dr. Welt: 关于这个与脑下垂体相关的基因变化,有趣的是大发娱乐实际上已经能够观察到这个基因的变化, 看看那些给女性服用来曲唑或克罗米芬治疗不孕症的大型研究, 大发娱乐实际上可以在一些小的研究中证明这个碱基对的变化实际上决定或预测了在这些研究中谁可能对克罗米芬有反应. 所以你也许可以从这些基因变化中得出结论,一种治疗方法比另一种治疗方法对这些女性更有效.

    It also brings us back quite a long way. 我想20年前大发娱乐在研究这些激素时并没有任何遗传基础, 大发娱乐已经能够证明有一组女性的垂体激素水平非常高, and they always seemed somewhat different than other women with PCOS. 所以她们的脑下垂体很可能比其他女性分泌更多的激素, 所以大发娱乐可能会使用低剂量的药物,比如雌激素或低剂量的避孕药,试图在早期抑制这些激素,这样女性就不会有太多多囊卵巢综合征的副作用, 比如过度的毛发生长或痤疮,这可能伴随着垂体激素水平的升高.

    Personalized Treatment Approaches

    Interviewer: So it gives you a direction of different treatment approaches that you can try, you think?

    Dr. Welt: Exactly, 我认为大发娱乐一直认为多囊卵巢综合征可能有不同的原因,它可能不止一种综合征, and so this might help us just break patients out to use things that we already have, 或者开发新的药物,直接针对由基因变化引起的激素异常.

    Integrating Endocrinology with OB/GYN Care

    Interviewer: 所以你真的认为如果这些女性除了看妇产科医生之外,还去看内分泌科医生,她们会得到很好的服务?

    Dr. Welt: Yeah, I think the OB/GYNs certainly are very aware of the condition, and I think they are absolutely doing the right things with their patients. I think when they are finished with fertility-related procedures, 有时超重或糖尿病不一定由妇产科医生来处理,所以他们最好去看内分泌学家.

    But I also think that the internists may not be as aware of the condition, and if they are aware of taking a menstrual cycle history, aware of the diagnosis, 如果他们觉得照顾病人不舒服就会把病人转介给内分泌科医生或妇科医生, I think that is an important first step. 我认为很多女性都没有被认识到,没有人真正做出诊断或知道治疗方法.