Female fertility is dependent upon the structural and functional integrity of the hypothalamic–pituitary–gonadal axis and the female genital tract. Although under the neuroendocrine control of the gonadotropin releasing hormone pulse generator, disruption of the hypothalamic–pituitary–gonadal axis at any of the multiple levels can impair its normal function. These derangements may occur at (1) the hypothalamus, (2) the pituitary, (3) the gonads, and these patients present with hypogonadism. In addition, patients with endometriosis or disruption in their genital tract present with eugonadal infertility. A coherent and practical evaluation of female patients with infertility should allow proper diagnosis in many patients although unexplained infertility is common. The clinical features and molecular basis (if known) of these disorders are detailed.
