This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor 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.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR010732-14
Application #
7718762
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2008-04-01
Project End
2009-03-31
Budget Start
2008-04-01
Budget End
2009-03-31
Support Year
14
Fiscal Year
2008
Total Cost
$3,246
Indirect Cost
Name
Pennsylvania State University
Department
Type
Schools of Medicine
DUNS #
129348186
City
Hershey
State
PA
Country
United States
Zip Code
17033
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