Genetics and genomics of primary ovarian insufficiency

Abstract

Primary ovarian insufficiency (POI), affecting up to 1 in 100 females, is characterized by oligomenorrhea or amenorrhea with raised gonadotropins and low estradiol. It can result from follicular depletion or dysfunction. Many studies have shown a genetic basis to POI with more than 50 genes implicated in the condition. Our understanding of POI genetics is far from complete with most cases having no known cause. This chapter discusses the current knowledge of the genetic basis of POI. Identifying a genetic basis for POI enables personalized treatment, preemptive management, and counseling in affected family members while allowing for better understanding of disease mechanisms, which is necess..