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


METHODS
Case report.


METHODS
University medical center.


METHODS
One 25-year-old woman.


METHODS
Pedigree, hormone assays, and donor embryo transfer.


METHODS
Pregnancy.


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


CONCLUSIONS
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.
Siewert
Annette L
AL
Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota 57105, USA.
Stein
Quinn
Q
Flanagan
Jason
J
Hansen
Keith A
KA
D000328:Adult; D016569:Blepharophimosis / Q000150:complications*; D001763:Blepharoptosis / Q000150:complications*; D004624:Embryo Transfer; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications*; D011247:Pregnancy; D016649:Primary Ovarian Insufficiency / Q000209:etiology* / Q000628:therapy; D013577:Syndrome