An explanation of the mechanisms underlying fragile X-associated premature ovarian insufficiency

The objective of this paper was to formulate a theory to explain the Mechanism for FXPOI.Recent research on fragile X syndrome and FXTAS has led to sophisticated theories about the mechanisms underlying these diseases. It has been proposed that similar mechanisms underlie FXPOI. Utilizing recent research on FXTAS, but a more detailed application of ovarian physiology, we present a more ovarian specific theory as to the primary mechanism explaining the development of FXPOI.The FXPOI phenotype may best be viewed as derivative of the observation that fragile X PM carriers experience menopause an average of 5  years earlier than non-carriers. Women carrying the PM experience an earlier menopause because of an accelerated activation of their primordial follicle pool. This acceleration of primordial follicle activation occurs, in part, because of diminished AMH production. AMH production is diminished bec ause of accelerated atresia of early antral follicles. This accelerated atresia likely occurs because the fragile X PM leads to a slowing of the rate of granulosa cell mitosis in some follicles.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research