Fragile X-Associated Primary Ovarian Insufficiency (POI) is relatively common but often goes unrecognized.


Synonym: FXPOI


Clinical features:

(1) ovarian dysfunction including decreased fertility

(2) onset of menopause when < 40 years of age

(3) family history of premature menopause or ovarian failure


Genetic features:

(1) The woman is a permuation carrier with 1 FMR1 allele that has 55 to 200 CGG repeats.


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