Background: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) type I is a rare disorder that causes a recognizable pattern of eye abnormalities and is associated with premature ovarian insufficiency. There is no data to guide the treatment of these patients when presenting with infertility.
Case: A 30-year-old, nulligravid woman with premature ovarian insufficiency associated with BPES type I presented to care secondary to a desire to conceive. Ovarian stimulation with gonadotropins was performed, and the patient conceived and delivered viable twins.
Conclusion: It is not known whether premature ovarian insufficiency associated with BPES type I follows the same clinical course as idiopathic premature ovarian insufficiency. In patients with BPES type I who present with infertility, ovarian stimulation with gonadotropins may be a reasonable therapeutic option.