Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.

ABSTRACT: Primary ovarian insufficiency (POI) is the cessation of ovarian function before the age of 40. The causes of POI are heterogeneous, but substantial evidence exists to support a genetic basis of POI, particularly in the critical involvement of genes on the X chromosome. Recent studies have revealed novel candidate genes through the identification of copy number variations associated with POI. This review summarizes the genes located on the X chromosome with variants shown to be associated with POI in humans and/or in mice. Additionally, we present evidence to support the potential involvement of these candidate genes in the etiology of POI. We conducted a literature search in PubMed to identify case studies and screenings for the genetic causes of POI. We then performed systematic searches

SUBMITTER: Knight A 

PROVIDER: S-EPMC11603650 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature