Human genetics and assisted reproduction in endometriosis

Endometriosis is a prevalent disease imposing detrimental impacts on female health and fecundity. Although detection of asymptomatic endometriosis is challenging at present, studies have revealed promising results for detecting asymptomatic endometriosis with a panel of biomarkers. Endometriosis is associated with blood trace metals. While blood zinc displays a protective role against endometriosis, the relationship between blood lead and endometriosis remains unclear. Phthalates disturb human endocrines and are associated with endometriosis and poor development of oocytes and embryos. For women with endometriosis suffering from infertility, assisted reproduction is the most efficient treatment. While the most appropriate treatment remains controversial in recurrent endometriosis, the cystectomy of the endometrioma should always be replaced by cyst aspiration in order to preserve the ovarian reserve. Although the association between adenomyosis and infertility has not been well established, assisted reproduction following pituitary down-regulation or surgical removal of the endometriotic lesions are both efficient management techniques for infertile women with adenomyosis.