Premature ovarian failure (POF), also known as Primary Ovarian Insufficiency (POI), occurs in about 1% women before the age of 40. POF used to known as premature menopause since both conditions appear to involve a similar loss of function of the ovaries. Ovarian failure is currently diagnosed based upon the absence of your menstrual cycles (amenorrhea) for several months accompanied by high levels of follicle stimulating hormone (FSH) and low levels of estrogen and anti-mullerian hormone (AMH).

 

You can read a full discussion of premature ovarian failure  here. 

 

There are many different causes for premature ovarian failure. Some cases are caused by problems with a woman’s immune system. Other cases are due to the absence of one of the sex chromosomes (X chromosome). In many cases, the cause for POF is never discovered. An emerging focus of scientific interest is in the area of gene mutations. There are cases in which women with a normal number of chromosomes have been found to have mutations in specific genes as the cause for POF. ACGT, Inc. is developing a new POF diagnostic test that utilizes DNA extracted from cells taken from inside patients’ cheeks and tests for a large number of gene mutations that are thought to cause POF. Such testing is not currently clinically available. It is hoped that an extended panel of gene mutations will help physicians find the cause for POF more frequently and be able to counsel patients more appropriately.

 

HOW SAMPLES WILL BE USED IN OUR STUDY

 

As a subject in this study, you will be asked to provide swabs from inside your cheeks, which is painless. ACGT, Inc. will use the DNA extracted from cells swabbed from inside your cheek to evaluate a series of gene mutations for their ability to serve as diagnostic indicators for POF.

 

COST

 

There is no cost to participate in the study. However, you must be a registered patient of IVF1  and you must have clinical and laboratory evidence to support a diagnosis of premature ovarian failure. If you suspect that you have POF but haven't had an actual diagnosis yet, you can have a consultation and testing at IVF1. This should be covered by your regular medical insurance. If you are determined to have POF, then you may complete the additional tests in the study for free.

 

HOW DO I GET STARTED?

 

If you are already a patient of IVF1 with a diagnosis of premature ovarian failure, simply call the office at 630-357-6540 to schedule an appointment to sign a consent and have your cheeks swabbed. It takes only a few minutes and is painless. If you are not a patient, register to become a patient  and schedule an initial consultation.