PHENOTYPING KINDREDS OF FAMILIAL 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。 这一建议的总体假设是，家族性多囊卵巢综合征(PCOS)是一种遗传性疾病。多囊卵巢综合征是育龄妇女最常见的内分泌疾病之一，以高雄激素性无排卵为特征。尽管经过了50多年的研究，其病因仍不明确。研究综合症的遗传学方法可能会分离出一个或多个候选基因。然而，基因研究受到了与临床同行相同的因素的限制。没有临床或生化标记物是该综合征独有的，必须首先排除其他高雄激素血症的病因。此外，非育龄女性和男性的表型尚不清楚。澄清表型将允许指定受影响的状态。这对于对可疑的遗传模式进行分离分析以及最终进行连锁分析以确定可能涉及的特定基因都是必要的。我们的目的是对多囊卵巢综合征的家系进行全表型分析，以确定受影响的状态，作为连锁分析的前奏。我们建议对临床、生物测定和生化异常的家族性多囊卵巢综合征家系进行充分的表型。

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. The overall hypothesis of this proposal is that familial polycystic ovary syndrome (PCOS) is a genetic disorder. PCOS is one of the most common endocrine disorders in women of reproductive age, and is characterized by hyperandrogenic anovulation. Despite over fifty years of research, the etiology is still uncertain. Genetic approaches to the study of the syndrome may isolate one or more candidate genes. However, genetic studies have been limited by the same factors as their clinical counterparts. There is no clinical or biochemical marker that is exclusive to the syndrome and other etiologies of hyperandrogenism must first be excluded. Additionally, the phenotype of women of non-reproductive age and among men is unclear. Clarifying phenotypes will allow assignment of affected status. This is necessary both to perform segregation analysis for suspected mode of inheritance and eventually for linkage analysis to identify specific genes that may be involved. Our intention is to fully phenotype kindreds with PCOS for the purpose of assigning affected status as a prelude to linkage analysis. We propose to fully phenotype previously identified kindreds of familial PCOS for clinical, biometric and biochemical abnormalities.