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.
