Friday, July 29, 2011


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I am working on putting together brief overviews about the different Fragile X Associated Disorders - and this is the second (behind the Fragile X Syndrome page I have up).  You can find this post as well under the tab at the top labeled FXPOI.  Much of this is simplified to make it easier to understand, and while I got my information from Fragile X websites - it should not be taken as medical advice.

Fragile X Associated Primary Ovarian Insufficiency, or FXPOI is a condition in which the ovaries stop functioning normally in a woman younger than age 40. Common symptoms of POI include absent or irregular periods and infertility.  POI is not menopause.  Women with FXPOI may develop symptoms similar to those of menopause such as hot flashes and vaginal dryness, but it differs from menopause in some important ways.

  • Women with POI are still able to get pregnant in some cases because their ovaries may release viable eggs now and then.
  • Women with POI can experience a return of menstrual periods
  • Some women will become pregnant years after an initial diagnosis.
Approximately 20%-28% of women that are carriers of FXS experience FXPOI and another 23% experience early menopause.  That means that as a carrier, you have about a 50% chance of menopause occurring before age 45.

ALL women that are carriers of FXS have some decrease in ovarian function (decreased fertility), and some are at risk for anxiety and depression as well.
  It must be noted though, that many women with premutations are able to conceive and you should not assume decreased fertility.  The decreased fertility is related to increased levels of some hormones, particularly FSH and a decreased length of a phase in the menstrual cycle called the follicular phase.  The current recommendation for women with the premutation is to have FSH levels evaluated and monitored throughout their childbearing years.

If you have POI and no known history of Fragile X, you have about a 1/50 chance of being a premutation carriers.  For women with POI and a family history of relatives with POI, you have about a 1/15 chance of carrying the premutation and have a significant risk of having a child with FXS as well.  Testing for Fragile X is highly recommended.

This is a fantastic PDF about POI
, though it doesn't refer to Fragile X at all.    It contains a lot of basic information about how menstrual cycles work and what kind of tests should be run to determine POI as well as information on the different treatments.

If you are a FXS carrier, even without POI you should begin taking at least 1500mg of elemental calcium (make sure you check the label to be sure as most supplements total is not just elemental calcium).  For those with POI on a hormone replacement therapy, you should be taking at least 1000mg of elemental calcium split into doses of 600mg at a time as that is all the body can absorb at once.  Also be sure you are getting a decent amount of vitamin D as it helps to absorb calcium.    Calcium is such an important thing for women, but especially for FXS carriers as we are at higher risk for osteoporosis as well.


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