Premature ovarian insufficiency (POI) refers to ovarian impairment/failure before the age of 40 years in women.The prevalence of POI is reported about 1%.The quality of life of POI patients is affected and POI women are partly responsible for the infertility in reproductive field.As the understanding in POI is deepened,the diagnosis criteria of POI have been changed recently.The etiology of POI is complicated,which includes the genetic factor,autoimmune and metabolic factors,iatrogenic and so forth.Here the progress of diagnosis criterion and the genetic analysis of POI are addressed.