Taiwanese Journal of Obstetrics and Gynecology
Volume 45, Issue 1 , Pages 60-63, March 2006

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

  • Yu-Shiou Lin
    • ,
  • Man-Li Yang

      Affiliations

    • Corresponding Author InformationCorrespondence to: Dr. Man-Li Yang, Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, 201 Shih-Pai Road, Section 2, Taipei 112, Taiwan

Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, and National Yang-Ming University School of Medicine, Taipei, Taiwan

Received 11 July 2005; received in revised form 13 July 2005; accepted 14 July 2005.

Summary 

Objective

The 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 Report

We report a family of fragile X syndrome. All six daughters had POF and both of the grandsons born to the daughters showed mental retardation.

Conclusion

We concluded that there was an association between fragile X syndrome premutation and POF, and established a model mechanism to explain the relationship.

Key Words:  fragile X syndrome , premutated carrier , premature ovarian failure , POF

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PII: S1028-4559(09)60193-5

doi:10.1016/S1028-4559(09)60193-5

Taiwanese Journal of Obstetrics and Gynecology
Volume 45, Issue 1 , Pages 60-63, March 2006

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