Abstract
Normal menstrual cycling results from a complex and integrated process that requires the temporal coordination of hormonal secretion and signalling within the hypothalamic-pituitary-ovarian axis. Disruption of these signals at any point in the axis can manifest clinically as amenorrhea (the absence or abnormal cessation of menstrual cycles), or as oligomenorrhea (less than nine menstrual cycles a year). Primary amenorrhea refers to the failure to menstruate by age 15 years in the presence of normal secondary sexual development or within 5 years of breast development, if that occurs before age 10 years. Secondary amenorrhea refers to amenorrhea that occurs after menarche. The causes of oligomenorrhea and both primary and secondary amenorrhea are similar, and the differential diagnosis is extremely broad. Causes can be generally divided into genetic (covered here) and nongenetic. This chapter will therefore focus on genetic causes of oligomenorrhea that primarily affect ovarian and/or adrenal function. Specific attention will be given to the most common etiologies: primary ovarian insufficiency (POI), polycystic ovary syndrome (PCOS), and nonclassic congenital adrenal hyperplasia (CAH).
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