Abstract: Women with diminished ovarian reserve (DOR) have a normal menstrual cycle, but the decreased number and quality of oocytes and fertility decline. DOR is more often than premature ovarian failure (POF), which affects nearly 10% of patients seeking fertility treatment. However, less is known about its etiology. DOR can be divided into two groups: physiological DOR and pathological DOR. The etiology of pathological DOR may be multifactorial, including autoimmune, heredity, idiopathic and other factors. Idiopathic DOR may have genetic factors. The purpose of this article is to review the pathological DOR-related gene mutations, gene polymorphisms and telomere length, and to discuss the possible molecular screening and early diagnosis of pathological DOR through molecular genetic and etiological analysis. 

Key words: Primary ovarian insufficiency；, Mutation；, Polymorphism, single nucleotide；, Telomere shortening；, Diminished ovarian reserve