Abstract

Premature ovarian insufficiency (POI) refers to menopause before the age of 40. Although a rather common condition (~1% of women), up to 70% of cases remain unexplained.
Various genetic factors account for 20-25% of the known causes, the most prevalent being chromosomal abnormalities and FMR1 gene premutation. To date, 20 genes have been reliably linked to the isolated condition of the diminished ovarian reserve. Currently, research is focused on numerous candidate genes uncovered by exome sequencing and implicated in ovarian development and function, meiosis, DNA repair.
In the clinical setting, molecular diagnostics of POI is becoming increasingly important because of the increasing number of women who postpone motherhood. Identifying a specific genetic factor is necessary for infertility management and plays a crucial role in family counselling. In addition to the immediate benefit to patients, uncovering the genetic etiologies of POI will contribute to the development of new treatment methods.