Searchable abstracts of presentations at key conferences in endocrinology

ea0073aep602 | Reproductive and Developmental Endocrinology | ECE2021

Syndromic premature ovarian insufficiency: report of 2 cases with blepharophimosis-ptosis-epicanthus inversus syndrome type 1

Kraoua Lilia , Fredj Hana , Adhoum Cyrine , Achour Ahlem , Maazoul Faouzi , Trabelsi Mediha , Mrad Ridha

IntroductionPremature ovarian insufficiency (POI) is defined by menstrual disturbance (oligomenorrhea or amenorrhea) before 40 years and confirmed by two FSH levels in the menopausal range, obtained at least a month apart. Some POI cases are syndromic such as Turner’s syndrome or Blepharophimosis–Ptosis–Epicanthus inversus Syndrome type 1 (BPES). BPES type 1 (MIM: 110100) is a rare autosomal dominant syndrome caused by mutations in FOX...