Fertility and Sterility
Volume 90, Issue 5 , Pages 2016.e11-2016.e12, November 2008

Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism

  • Annette L. Siewert, B.S.
    • ,
  • Quinn Stein, M.S.
    • ,
  • Jason Flanagan, M.S.
    • ,
  • Keith A. Hansen, M.D.

      Affiliations

    • Corresponding Author InformationReprint requests: Keith A. Hansen, M.D., Professor and Chairman, Department of Obstetrics and Gynecology, Sanford School of Medicine of the University of South Dakota, 1400 West 22nd Street, Sioux Falls, SD 57105 (FAX: 605.357-1528).

Sanford School of Medicine at the University of South Dakota, Sioux Falls, South Dakota

Received 14 May 2008; received in revised form 11 June 2008; accepted 10 July 2008. published online 15 September 2008.

Objective

To describe a woman with blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism.

Design

Case report.

Setting

University medical center.

Patient(s)

One 25-year-old woman.

Intervention(s)

Pedigree, hormone assays, and donor embryo transfer.

Main Outcome Measure(s)

Pregnancy.

Result(s)

The patient with hypergonadtropic hypogonadism obtained an ongoing pregnancy after donor embryo transfer.

Conclusion(s)

Blepharophimosis-ptosis-epicanthus inversus syndrome is associated with evidence of premature ovarian failure. The syndrome is a sex-limited, autosomal dominant trait that causes selective loss of ovarian function in affected females. This report emphasizes the importance of a thorough family history and pedigree analysis in the evaluation of a patient with hypergonadotropic hypogonadism.

Key Words: Blepharophimosis-ptosis-epicanthus inversus syndrome, hypergonadotropic hypogonadism

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 A.L.S. has nothing to disclose. Q.S. has nothing to disclose. J.F. has nothing to disclose. K.A.H. has nothing to disclose.

PII: S0015-0282(08)03286-X

doi:10.1016/j.fertnstert.2008.07.1763

Fertility and Sterility
Volume 90, Issue 5 , Pages 2016.e11-2016.e12, November 2008

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