Genetic causes of premature ovarian insufficiency and ovarian dysgenesis

Premature ovarian insufficiency (POI) is characterized by the onset of amenorrhea before 40 years of age combined with hypergonadotropic hypogonadism. The prevalence in women aged 40 is 1%. Ovarian dysgenesis is characterized by full depletion of follicles at birth and can be seen as the most severe manifestation of POI. In most cases POI occurs as an isolated condition but can also be part of a syndrome. Besides non-genetic factors POI can also be caused by chromosome aberrations, monogenetic defects and polygenic multifactorial inheritance. Although more than 30 genes associated with POI are known in the majority of cases the etiology of POI remains unknown.