Frühzeitige Ovarialinsuffizienz und FMR1-Mutation

Premature ovarian insufficiency (POI) is a rare but severe condition in women characterized by an early onset of menopause before the age of 40 years. The underlying reasons can be iatrogenic, immunological and/or genetic. One cause is a mutation in the fragile X mental retardation 1 (FMR1) gene on the X-chromosome. The FMR1 premutation allele contains 55-199 CGG repeats in the 5' untranslated region and is associated with fragile X-associated primary ovarian insufficiency (FXPOI). Approximately 20% of premutation carriers develop POI. The reason for this variable phenotype is not yet clearly understood and might be influenced by the length of the CGG repeat region and the influence of other genetic or environmental factors. The full mutation allele (> 200 CGG repeats) is not associated with POI but with clinical fragile X syndrome including mental retardation. The FX-POI has a severe impact on the fertility and health of affected women and their families and must be addressed with great care in diagnostic and therapeutic steps.