Premature Ovarian Failure : Genetic and Physiopathologic Analysis

Premature ovarian failure (POF) is a rare but not exceptional disease concerning 0.1% of the more-than-thirty-years-old women. On the clinical aspect, patients present a primary or secondary amenorrhea depending on when the disease occurs in their lives. Infertility is most of the time definitive and the yet only available therapy is auto implantation of cryopreserved oocytes. Initiation of a substitutive hormonal treatment is also necessary to prevent the consequences of estrogenic hardship (i.e leading to osteoporosis).

POF has numerous possible origins, and can be linked to auto-immune diseases, metabolic disorders (i.e. galactosemia) or even genetic abnormalities. According to her origin, POF is characterized by (a) a depletion of primary follicles, (b) increased or accelerated follicle atresia (c) an alteration of the recruitment of dominant follicle and (d) stopped follicular maturation.

The purpose of our work is to organize a clinical and fundamental research network focussed on premature ovarian failure (POF). It will aim to collect clinical, biological, radiological and histological information on patients, and according to their phenotypes, to decide for searching possible genetic abnormalities leading to POF. And in the same time, the constitution of a broad tissue collection allows the study of ovarian transcripts, using POF as a pathologic model to describe ovaries and follicle development-involved genes.