Abstract: Premature ovarian failure (POF) is an important cause of female infertility. The aetiology of POF is highly heterogeneous, including genetic, autoimmune, infectious and metabolic factors. However, the aetiology is still undetermined in most cases. Chromosomal abnormalities have long been recognized as a frequent cause of POF, which account for 10%-15% of the cases. The X chromosome is mostly affected, ranging from numerical defects, structural alterations, X-autosome translocations. Here we report two cases of X-autosome translocations associated with POF and review the related literatures.

Key words: Chromosome aberrations；, X-autosome translocations；, Translocation, genetic；, Primary ovarian insufficiency