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

Malbin, J (2019) EARLY OVARIAN FAILURE WITH FRAGILE X SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE. Nursing and Midwifery Jouranl, 17 (9). pp. 690-695.

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Abstract

Primary ovarian insufficiency or premature ovarian failure (POF) 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 and play 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 CGG repeat expansion is associated with gene silencing and leads to mental retardation in males and POF with secondary amenorrhea in female carriers. In this paper, we report a middle-age woman with POF and premutation in her FMR1 gene who experience pregnancy after 5-year ovarian failure and her infant has the same genotype in the 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, however in some cases, heterozygous daughter offspring exhibit mild side effects such as developmental delay. Genetic counseling could help the family make the right decision and in some cases could help prepare for consequences of their decision.

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