DISSECTING THE GENETIC BASIS AND MOLECULAR MECHANISMS OF PREMATURE OVARIAN FAILURE

Premature Ovarian Failure (POF) is a heterogeneous disorder with a strong genetic component. It is characterized by cessation of menses before 40 years of age, elevated levels of serum gonadotropins and sex hormones deficiency. Besides the conceiving problems, estrogen deficiency at young age has severe consequences on women health ranging from cardiovascular and neurological disorders to early onset osteoporosis. POF prevalence is about 1% in female populationand it account for about 10% of all female sterility problems. The approach proposed is aimed at the identification of the genetic factors involved in the etiology of POF. Evaluation of the prevalence of genetic factors will assess their contribution and eventually establish their diagnostic relevance. Functional studies will elucidate some of the molecular mechanisms regulating ovarian development and function and contribute not only to address clinical problems related to POF but also to widen the knowledge on the fundamental process of reproduction.