Recent advances in the study of genes involved in non-syndromic premature ovarian failure

Premature ovarian failure (POF) is a common pathology leading to infertility affecting about 1% of women under 40 years old. In POF patients, the ovarian dysfunction is characterized by the lack of the ovarian response to close a negative feedback loop on the synthesis of pituitary gonadotropins. Although the majority of cases are considered as idiopathic, diverse aetiologies have been associated, including genetic factors. Up to now, the potential genetic causes of non-syndromic POF have been established mainly by genetic linkage analysis of familial cases or by the screening of mutations in candidate genes based on animal models. Here, we review recent advances in the study of candidate genes.