Short description:

Premature ovarian failure [now increasingly termed premature ovarian insufficiency (POI)] is the loss of ovarian function and consequently loss of fertility with estrogen deficiency before the age of 40 years and affects 1% of women. In some women, specific causes can be found, such as evidence of autoimmune follicular damage, chromosome abnormalities, premutations in the FMR1 gene or iatrogenic damage such as past exposure to chemotherapy or radiotherapy. In a majority of women, however, no specific cause is found. There have been extensive searches for mutations in genes known to have key roles in physiological regulation of ovarian development and function, but these have been identified only rarely, with perhaps the exception of the transcription factor NOBOX oogeneis homeobox, which may account for a larger proportion of cases than other single-gene mutations (1). Genome-wide association studies have also provided some insight but have been of limited direct clinical relevance thus far in understanding this relatively common condition.

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Kisspeptin receptor haplo-insufficiency causes premature ovarian failure despite preserved gonadotropin secretion. [Endocrinology. 2014]
Loss of Ntrk2/Kiss1r signaling in oocytes causes premature ovarian failure. [Endocrinology. 2014]