Abstract
Vol.36 No.1
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Original
Fragile-X premature ovarian insufficiency: a lesser known cause of infertility among Asian women
JMOR, 36(1) 45-52, 2019
This study discusses the prevalence of the Fragile X premature ovarian insufficiency (FXPOI) and Fragile X mental retardation 1 genes in Asian women and highlights it as an important cause of infertility in this demographic. A literature search of PubMed and Google Scholar was performed for articles related to studies on FXPOI conducted in the Asian population. Nine studies were selected which focused on phenotypically normal Asian women at high risk of carrying premutation and Asian women who had ovarian insufficiency and premutation. Prevalence of premutation was higher in women with FXPOI vs. phenotypically normal premutation carriers (1.24% vs. 0.235%). Of the women in this study 7.94% had POI related to premutation. However, this percentage reflects a lower prevalence of FXPOI compared to women comprising the western population, where about 13.8% cases of POF are related to premutation. We posit two possibilities: Either there is underreporting of FXPOI due to misdiagnoses, or the reported low prevalence is the true prevalence. Our study shows a higher prevalence of premutations in Asian women with POF versus phenotypically normal Asian carriers who may be at risk of subsequently developing FXPOI, underscoring that FXPOI is an important genetic cause of ovarian insufficiency.
