The genetics, diagnosis and treatment of amenorrhea.

The menstrual cycle is regulated by complex feedback interactions between the ovaries, pituitary and hypothalamus. A disruption at any point in one of these pathways may lead to irregularities in the menstrual cycle. In particular, amenorrhea, the cessation of menstrual functioning, serves as an indicator of ovarian, pituitary and/or hypothalamic dysfunction. Historically, diagnosing and treating amenorrhea presented medical professionals with numerous practical difficulties. In recent years, however, studies of amenorrhea have yielded new understandings and new treatments of the disorder. This paper synthesizes these current methodologies for diagnosing, treating and understanding both primary and secondary amenorrhea.