Blepharophimosis-ptosis-epicanthus syndrome (BPES) is rare (1:50.000 genera) genetic autosomal dominant syndrome, the main manifestations of which are blepharophimosis, ptosis, epicanthus. Two clinical variants of BPES are known: without impaired ovarian function and with impaired ovarian function, which is manifested by their premature depletion, infertility, hypergonadotropic amenorrhea. The molecular genetic basis of the syndrome is the polymorphism of the FOXL2 gene localized in the long arm of chromosome 3. Mutation of the FOXL2 gene is described as one of the genetic forms of premature ovarian failure. The article describes two different clinical options for BPES in young women who came to the reproduction clinic for pregnancy planning. The history, the results of laboratory and instrumental studies of patients are described, as well as factors that complicate the diagnosis of the syndrome are considered.