[Ovarian insufficiency in blepharophimosis, ptosis, epicanthus inversus]

Combined blepharophimosis, ptosis, and epicanthus inversus (BPEI) represent a rare syndrome with autosomal dominant transmission. In affected females it can be associated with infertility. In this case report we could follow the development of primary ovarian failure in a 28-year old woman with BPEI by repeated hormone determinations. Endocrinological and morphological results give good evidence of increasing gonadotropin resistance on the ovarian level.