94. Ovarian Tissue Cryopreservation in a Patient with Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES)

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; OMIM: 110100) is an autosomal dominant condition characterized by a complex eyelid abnormality, including blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES is caused by pathogenic variants in the single-exon gene FOXL2. FOXL2, a forkhead-containing transcription factor, plays an important role in granulosa cell physiology and ovarian development, and has been implicated in various genetic etiologies of premature ovarian insufficiency (POI).
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Source Type: research