Case Report and a Brief Review on Fragile X Associated Premature Ovarian Insufficiency (FXPOI)

Abstract

Background: Primary ovarian insufficiency (POI) is a major cause of female infertility due to early loss of ovarian function and menopause before the age of 40 years. POI is highly heterogeneous with both genetic and nongenetic etiologies. Approximately 20% of POI women are carriers for FMR1 premutation CGG repeats. Methods: FMR1 CGG repeat sizing is done by triplet primed repeat polymerase chain reaction. We report the case of a 25-year-old woman presenting with primary infertility carrying fragile X premutation. Conclusion: Genetic evaluation and counseling for fragile X syndrome in POI is very important for effective reproductive options.