Studies have shown that female carriers of Fragile X with the pre-mutation have a higher incidence of Primary Ovarian Insufficiency (POI)*, early menopause and.ovarian dysfunction (decreased fertility).

The average age of menopause is around 50 years with the majority going through it the 45-55yr age range, some as young as 40, others as old as 60. Menopause before the age of 45 is considered to be “early menopause”. After menopause the ovaries stop functioning completely. With POI the ovaries stop functioning normally in a woman under the age of 40. Symptoms of the premenopausal time, often referred to as “going through the change” are very similar to those in POI.

Although POI often leads to an early menopause they are not the same. Women with POI may still become pregnant as their ovaries may still release eggs. In some cases menstrual cycles may start again after they have seemingly finished which cannot happen in menopause. Pre-mutation carriers of Fragile X can also experience milder forms of ovarian insufficiency where there are no menopausal like symptoms but there is difficulty becoming pregnant.

How common is POI in Fragile X Carriers?

Studies indicate that:

• Between 21-28% of women who are premutation carriers of Fragile X experience POI compared to around 1% of women in the general population – Primary Ovarian Insufficiency (POI) and Fragile X on the NFXF site
• 13.8 percent of women with a family history of POF, and 2.1 percent of women without a family history of POF may be carriers of Fragile X NICHD
• Menopause occurs 6-8 years earlier than women in the general population Causes of Premature Menopause

Research

• Confirmation of early menopause in fragile X carriers “Fragile X carriers have a mesendian age of menopause 6 to 8 years earlier than women in the general population, with 28% experiencing premature ovarian failure defined as menopause before the age of 40 years” A study by M. W. Partington 1 *, D. York Moore 2, G. M. Turner 1 Hunter Genetics, Newcastle, New South Wales, Australia, UK Fragile X Society, Hastings, United Kingdom. Published in American Journal of Medical Genetics Part A Volume 64 Issue 2.

More information:

• Menstrual Cycles, the FMR1 Premutation,
  and “Primary Ovarian Insufficiency” – an article in the March 2007 edition of The National Fragile X Foundation Quarterly written by Lawrence M. Nelson, MD (a pdf document )
• Facts about Primary Ovarian Insufficiency (POI) and Primary Ovarian Insufficiency (POI) and Fragile X on the National Fragile X Foundation site
• Early Menopause- a website of The Jean Hailes Foundation for Women’s Health, Australia has a great deal of information on symptoms and management including downloadable factsheets

* Note: You may see POI referred to as Premature Ovarian Failure (POF) – The US National Institutes of Health and therefore National Fragile X Foundation now use the term POI