The Genetic Origins of Ovarian Failure*

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Abstract
Premature ovarian failure (POF) is a condition characterized by cessation of ovarian function before the age of 40. The recent meeting at the National Institute of Child Health and Human Development brought together experts from diverse disciplines to share current perspectives on the genetic and physiologic origins of POF, with the idea that insights gained from these studies may provide important clues about the regulation of normal ovarian aging and perhaps aging processes in general. It was suggested that several murine genes, including Zfx, c = kit, and the kit ligand, should be fertile candidates for investigation of the etiology of POF in human families. The specific roles of the human DL4 and FMR1 gene products in germ cell development need clarification in murine models, and there are more as yet unidentified genes residing on the long arm of the X chromosome that are also implicated in the regulation of human ovarian function. Genes acting at later stages of oocyte or ovarian follicle function, such as gonadotropin hormones and receptors, are responsible for POF in some women. POF has been found to be a heterogeneous disorder, the dissection of which offers promising insights into mechanisms governing germ cell origination, migration, and proliferation, meiotic mechanisms, and factors governing oocyte maturation and survival.