December 1st, 2023

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Pregnancy in a Woman with Premature Ovarian Insufficiency Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Type I: A Case Report
Authors:  Lauren W. Roth, M.D., and Ruben Alvero, M.D.
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.
Keywords:  blepharophimosis, ptosis, epicanthus inversus type 1; blepharophimosis, ptosis, epicanthus inversus with ovarian failure; ovarian stimulation; premature ovarian failure; primary ovarian insufficiency
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