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Primary ovarian insufficiency (POI) is characterised by the arrest of normal ovarian function before the age of 40 years and affects 1 % of all women. POI shows familial inheritance suggesting a genetic contribution. NR5A1 is nuclear receptor that regulates the transcription of many genes involved in sexual developmental and reproduction. 18 NR5A1 mutations have been published associated with either anomalies of adrenal or testis development. We have identified NR5A1 mutations associated with POI, including familial cases with affected 46,XY individuals. This demonstrates that NR5A1 plays an important role in ovarian development and function. However several questions remain. What is the incidence of NR5A1 mutations in POI? Is there a genotype/phenotype relationship? Are mutations associated with a progressive loss of reproductive function? Answering these questions will lead to a better understanding of ovarian function and dysfunction and could lead to new therapies for treating POI.