[Genes and ovarian insufficiency]

Premature ovarian failure is defined as hypoestrogenism with elevated gonadotropins, occurring before the age of 40. The prevalence of this syndrome is 3% of the women population. In most cases its etiology remains unknown. In theory, ovarian failure may occur by the following mechanisms: the pool of primordial follicule is too low; the atresia ou apoptosis is increased in the ovarian follicle; the follicle maturation is interrupted. In the past few years, several genes have been implicated in the pathogenesis of human or murine premature ovarian failure. Those genes can be classified according to the potential mechanisms previously described. Atm and c-kit gene code for proteins involved in maintaining the pool of primordial follicles. Genes located on the X chromosome, genes involved in blepharophimosis, in galactosemia code for proteins involved in follicular atresia. The gonadotropins, their receptors, GDF9 and connexin 37 are involved in follicle maturation. A better understanding of the family of genes involved in oocyte and follicular atresia should allow a better understanding of premature ovarian failure. Up to now, the better care for those patients is to give them hormonal replacement therapy and suggest oocyte donation when they desire to be pregnant.