What is it?
Primary ovarian failure
An expansion of the trinucleotide repeat region in the FMR1 gene increases a woman’s risk of developing a condition called fragile X-associated primary ovarian failure (FXPOI). In this disease, the CGG trinucleotide repeat in the FMR1 gene is repeated between 55 and 200 times and is known as a premutation. Women who develop FXPOI may experience irregular menstrual cycles, the inability to have children (infertility), early menopause, and elevated levels of a hormone known as follicle-stimulating hormone (FSH).
Approximately 16% to 20% of women with this premutation have FXPOI, which causes abnormal menstrual cycles and elevated FSH levels before the age of 40 and often causes infertility.
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