The uterus is an essential organ for reproduction in mammals that derives from the Müllerian duct. Despite the importance of the uterus for the fertility and health of women and their offspring, relatively little is known about the hormonal, cellular and molecular mechanisms that regulate development of the Müllerian duct and uterus. This review aims to summarize the hormonal, cellular and molecular mechanisms and pathways governing development of the Müllerian duct and uterus as well as highlight developmental programming effects of endocrine disruptor compounds. Organogenesis, morphogenesis, and functional differentiation of the uterus are complex, multifactorial processes. Disruption of uterine development in the fetus and neonate by genetic defects and exposure to endocrine disruptor compounds can cause infertility and cancer in the adult and their offspring via developmental programming. Clear conservation of some factors and pathways are observed between species; therefore, comparative biology is useful to identify candidate genes and pathways underlying congenital abnormalities in humans.
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