Familial Premature Ovarian Failure in Female Premutated Carriers of Fragile X Syndrome: a Case Report and Literature Review

SummaryObjectiveThe fragile X syndrome is the most common form of familial mental retardation. Most males with the FMR1 full mutation function in the mentally retarded range of intelligence. In contrast, females with the FMR1 full mutation show a broader range of intelligence. The most impressive somatic involvement that is consistently found among only premutated carrier females, not full-mutation carriers, is premature ovarian failure (POF).Case ReportWe report a family of fragile X syndrome. All six daughters had POF and both of the grandsons born to the daughters showed mental retardation.ConclusionWe concluded that there was an association between fragile X syndrome premutation and POF, and established a model mechanism to explain the relationship.