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Fragile X and Premature Ovarian Insufficiency

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Key Points

  • Fragile X disorders are due to the expansion of CGG repeats in the FMR1 gene on the X chromosome.
  • The fragile X premutation (55-200 CGG repeats) affects 1/150-300 women
  • 16-30% of premutation carriers will develop premature ovarian insufficiency (POI). The highest risk and earliest onset of POI is seen in women with 70-100 CGG repeats.
  • There is an overlap between symptoms associated with fragile X premutation and POI
  • Fragile X screening is recommended for all women diagnosed with spontaneous POI
  • Management of fragile X POI is similar to other causes of POI
  • Women with the fragile X premutation should be referred for genetic counselling and fragile X screening offered to family members. Referral for fertility preservation should be considered for premutation carriers