Manejo reproductivo de las mujeres con la premutación del FMR1. Revisión de la literatura

ertility preservation is indicated in most cases of oncologic diseases and when gonadotoxic treatments are prescribed. However, in recent years, there has been an increase in preservation cycles carried out for benign diseases and conditions with a risk of developing premature ovarian failure. Premature ovarian insufficiency is related to a genetic disorder in 10% of cases. The most common known conditions are FMR1 premutation and Turner syndrome, and recently, other diseases such as mutations in the BRCA 1/2 genes have been implicated in this pathology.

We conducted a bibliographic review on premature ovarian insufficiency associated with the premutation of the FMR1 gene or Fragile X Messenger Ribonucleoprotein 1, the various pathophysiological theories described, and the difficulty in predicting which women will develop ovarian failure due to the lack of a useful predictive marker. Additionally, we evaluated different recommendations for managing these women and when to indicate the implementation of fertility preservation techniques. This option could prevent the psychological impact women of these women's reproductive health impairment.