Purpose of review: Premature ovarian insufficiency (POI) is a common disorder affecting approximately 1% of women under the age of 40 years. Until now, research aiming to identify genetic causes of POI was mostly based on candidate gene approaches. Recently, several genes have been identified using this approach, and genome-wide searches were conducted. In this review, we discuss these studies and propose future direction for further research in this field.

Recent findings: Candidate gene approach revealed NOBOX, NR5A1, FIGLA and PGRMC1 as POI-genes. Genome-wide searches (linkage and association studies) are revealing new loci/genes as well.

Summary: The role in POI for most reported candidate genes is still under discussion. Because POI families with several affected cases are rare, linkage studies are difficult to conduct; however, the reported loci needs further exploration/replication. In the only genome-wide association studies conducted, the patient cohort used is very small and the reported results are awaiting replication. Unravelling the genetics of POI will need the establishment of a large international consortium.