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.
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.
Authors: S Nuovo; M Passeri; E Di Benedetto; M Calanchini; I Meldolesi; M C Di Giacomo; D Petruzzi; M R Piemontese; L Zelante; F Sangiuolo; G Novelli; A Fabbri; F Brancati Journal: J Endocrinol Invest Date: 2015-06-23 Impact factor: 4.256