[Blepharophimosis-ptosis-epicanthus inversus associated with infertility]

Blepharophimosis-ptosis-epicanthus syndrome (BPES) is a rare genetic condition occurring sporadically and transmitted by autosomal dominant inheritance. Type I BPES is associated with a high incidence of menstrual irregularities and infertility. Its clinical presentation is attributed to either an ovarian resistance to gonadotropins or to a true premature menopause. Two pathophysiological underlying mechanisms have been proposed: one suggests that one or more mechanisms lead to inhibition of early follicular development or follicule atresia. The other raises the possibility that BPES results from microdeletion of genetic material containing at least 2 independent genes. We report a familial case of BPES identified at birth and who required several surgical procedures. Several members of the patient's family are also affected. Early recognition of this condition may allow appropriate counselling and/or treatments including egg donation in case of hypergonadotropic hypogonadism.