GENOTYPING FAMILIES OF WOMEN WITH PCOS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 多囊卵巢综合征(PCOS)影响5%-10%的育龄妇女。最近的证据有力地表明，在许多多囊卵巢综合征女性中，胰岛素的作用存在遗传缺陷。这种情况可能会使女性和其他家庭成员患糖尿病和心脏病的风险增加。这项研究的总体假设是，相当数量的多囊卵巢综合征和与之相关的胰岛素抵抗是有遗传基础的，并且有男性和女性的表型。本研究的目的是确定多囊卵巢综合征家系成员的临床和生化生殖表型，为后续的遗传连锁分析提供依据。我们还将尝试确定在家族性多囊卵巢综合征中是否存在男性、绝经前和/或绝经后的表型。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Polycystic Ovary Syndrome (PCOS) affects 5-10% of women of reproductive age. Recent evidence strongly suggests that there is a genetic defect in insulin action in many PCOS women. This condition may predispose females and other family members to an increased risk for diabetes and heart disease. It is the overall hypothesis of this research that a substantial amount of PCOS and the insulin resistance associated with it has a genetic basis and that there is a male as well as a female phenotype. The purpose of this study is to determine the clinical and biochemical reproductive phenotype in members of PCOS kindreds for subsequent genetic linkage analysis. We will also attempt to determine whether a male, a premenarchal and/or a post-menopausal phenotype exists in familial PCOS.