Endocrine Abstracts

Primary ovarian insufficiency is a disorder resulting in the loss of ovarian function. It is a multifactorial condition characterized by amenorrhea, estradiol deficiency and high FSH levels before the age of 40 years. Most POI cases are idiopathic. Although genes encoding factors involved in meiosis and DNA repair have been considered as obvious candidates to explain POI cases, it is only recently that whole-exome sequencing explorations have incriminated causal mutations in genes such as STAG3, SYCE1, MCM8, MCM9, HFM1, etc. These findings will be discussed in the context of POI but also from the perspective of male (in)fertility.