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Ovarian Health - Sufficiency/Insufficiency: The Study of Reproduction in Sisters

Illustration of the female reproductive system. Courtesy National Library of MedicinePrimary Ovarian Insufficiency (POI), also called Premature Ovarian Failure, Premature Ovarian Insufficiency, or early menopause, is a poorly understood cause of infertility affecting 1 percent of women under the age of 40.  POI is typically diagnosed in a woman under 40 with a history of four months or more of irregular or absent periods and two separate measurements of Follicle Stimulating Hormone (FSH) of 40 mIU/mL or higher, taken at least one month apart.  The diagnosis can be made by a physician, usually a Gynecologist or a Reproductive Endocrinology and Infertility specialist.  The cause of POI is unknown 90 percent of the time, but your doctor should send some basic tests to determine if a specific cause can be identified.  POI can affect multiple members in a family about 15 percent of the time and we know that POI has a genetic cause in many cases. 
The National Institutes of Health (NIH) and the National Human Genome Research Institute (NHGRI) are currently conducting research on the genetic causes of POI within families.  We are recruiting families with two or more first-degree relatives (sisters, mother-daughter) diagnosed with POI.  The goal of the study is to discover new genetic causes of POI, which may lead to a better understanding of this condition. 
We are looking for families willing to provide blood samples from as many available family members as possible (individuals with and without POI, including male relatives) to have specialized genetic testing called Whole Exome Sequencing.  Women affected by POI will also be asked to participate in a telephone medical and family history and will be asked for a copy of their medical records for review by the NIH research team.  
To learn more about our study and see if your family qualifies, please contact:
Dr. Maximilian Muenke   Dr. Nicole Banks
301-402-8167   301-402-4613
mamuenke@mail.nih.gov banksnk@mail.nih.gov


Premature Ovarian Failure Fact Sheet PDF file[asrm.org]
Spanish VersionPDF file

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Posted: October 28, 2013

Last updated: October 28, 2013