The genetic basis of female reproductive disorders: Etiology and clinical testing

► The molecular basis is known for ∼35% to 40% of hypogonadotropic hypogonadism and 15% of hypergonadotropic hypogonadism in women. ► For endometriosis, polycystic ovary syndrome, and leiomyomata, no causative gene has been identified. ► Genetic testing can be used for clinical diagnosis in hypogonadism and in spontaneous ovarian hyperstimulation syndrome. ► Clinical genetic testing is not practical for endometriosis, polycystic ovary syndrome, and leiomyomata.