Linkage analysis coupled with exome sequencing identified defects in gene ‘X’ causing premature ovarian insufficiency

摘要

Premature ovarian insufficiency (POI) is defined as a primaryovarian defect characterized by absent menarche(primary amenorrhea) or premature depletion of ovarianfollicles before the age of 40 (secondary amenorrhea) withhypergonadotropism and hypoestrogenism. POI results ininfertility and lifelong steroid deficiency, and is potentiallyassociated with accelerated health risks such as cardiovascularand neurodegenerative disorders and osteoporosis.