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Fragile X syndrome: of POF and premutations
  3. JIM WEBB,
  1. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK

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    Editor—We read with great interest the article by our colleagues de Vries et al 1on fragile X syndrome, which is generally informative and for the most part accurate. We do, however, take issue with two points raised in the article which should be clarified or corrected.

    Firstly, it is stated that “although in female premutation carriers an increased incidence of premature menopause has been reported, a recent study indicated that the premutation does not seem to be a major risk for early menopause”. This would indicate to most readers that there is insufficient or equivocal evidence supporting a link between fragile X premutations and premature ovarian failure. In fact, the authors are making a subtle distinction between “premature menopause” (cessation of menses before the age of 40) and “early menopause” (before the age of 47), neither of which they define. As our paper published in a subsequent issue shows,2 there is a highly significant association between fragile X premutations in women and menopause before the age of 40. In 147 women referred for premature ovarian failure (POF), four out of 25 patients with familial POF and two out of 122 patients with sporadic POF were found to carry a FRAXA premutation. Thus, …

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    • Research Article
      B B de Vries D J Halley B A Oostra M F Niermeijer