EARLY OVARIAN FAILURE WITH FRAGILE X SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE

Primary ovarian insufficiency or premature ovarian failure refers to a spectrum of impaired ovarian function that includes cessation of menses prior to the age of 40 years. POF has a strong genetic component with X chromosome abnormalities playing a primary role mainly in the cases with ovarian dysgenesis. Fragile X-associated primary ovarian insufficiency is one of the fragile X-associated disorders that can affect some premutation carriers. Fragile X syndrome is due to CGG expansion (>55 repeats) at the 5'UTR of FMR1 gene.The expansion of CGG repeats is associated with gene silencing resulting in male mental retardation and in POF with secondary amenorrhea in female carriers. In this paper we report a middle age woman with POF and premuation in her FMR1 gene who experience pregnancy after 5 year ovarian failure and her infant has a same genotype in FMR1 gene with developmental delay. Experiences of POF in the family with fragile x syndrome or permutation dost mean that family could not have a healthy child but heterozygote daughter could have some symptom such as developmental delay genetic counseling of these family could lead the family to right decision and in some cases could help prepare for subsequences of their decision.