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Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism
Annette L Siewert1, Quinn Stein, Jason Flanagan
1Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota 57105, USA.
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.
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