Premature ovarian insufficiency (POI) is characterized as premature menopause before the age of 40 years, with elevated follicle-stimulating hormone (FSH) levels (>25 IU/L) on two occasions more than four weeks apart. POI is one of the main factors causing female infertility, with the prevalence of 1% in women under 40 year-old. The infertility matter caused by POI become more predominant due to the elevated childbearing age in recent China. Genetic factor is an important cause of POI, recent years clinical geneticists and researchers efficiently find more and more pathogenic genes and mutations using high-throughput sequencing such as whole-exome and whole-genome sequencing technologies. This review will summarize and comment the recent new advances in the genetic field of POI. These genetic advances will paly critical roles in genetic counseling, fertility evaluation and genetic diagnosis.

Premature ovarian insufficiency (POI); Premature ovarian failure (POF); Genetics; Genetic mutation; High through-put sequencing