BROTHERS OF WOMEN WITH PCOS STUDY

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 多囊卵巢综合征（PCOS）是绝经前妇女最常见的内分泌疾病之一，影响7%的这一人群。 它有大量的生殖和代谢疾病。 本项目支持NIH/NICHD U 54 HD 034449的目标3。 我们已经确定了一个潜在的生化表型的硫酸脱氢表雄酮（DHEAS）水平升高的兄弟PCOS先证者。 我们的假设是，PCOS先证者姐妹篇的高雄激素血症是由于卵巢和肾上腺类固醇生成缺陷所致，DHEAS水平升高可能反映了受影响男性亲属的相同缺陷。 我们计划评估PCOS先证者的兄弟对ACTH的肾上腺类固醇生成反应。 此外，可能的情况是，睾丸类固醇生成的细微异常可以通过对可能受影响的男性亲属进行挑衅性测试来揭示。 我们将通过GnRH类似物测试对此进行研究。 我们还将确定兄弟是否与他们的PCOS先证者姐妹篇有相似的基因表达模式。

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) is among the most common endocrine disorders of premenopausal women, affecting 7% of this population. It has substantial reproductive and metabolic morbidities. This project supports Aim 3 of NIH/NICHD U54 HD034449. We have identified a potential biochemical phenotype of elevated dehydroepiandrosterone sulfate (DHEAS) levels in the brothers of PCOS probands. It is our hypothesis that hyperandrogenemia in the sisters of PCOS probands is due to a defect in ovarian and adrenal steroidogenesis and that elevated DHEAS levels may reflect the same defect in affected male relatives. We plan to assess adrenal steroidogenic responses to ACTH in the brothers of PCOS probands. Further, it may be the case that subtle abnormalities in testicular steroidogenesis can be unmasked with provocative testing of potentially affected male relatives. We will investigate this with GnRH analog testing. We will also determine whether brothers have similar gene expression patterns to their PCOS proband sisters.