title: Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism.
abstract: 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.
authors.affiliation: Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota 57105, USA.
authors.forename: Annette L
authors.initials: AL
authors.lastname: Siewert
authors.forename: Quinn
authors.initials: Q
authors.lastname: Stein
authors.forename: Jason
authors.initials: J
authors.lastname: Flanagan
authors.forename: Keith A
authors.initials: KA
authors.lastname: Hansen
mesh_terms: 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