Clinical and laboratory evaluation of patients with primary amenorrhea

Sixty-two patients with primary amenorrhea were retrospectively categorized into 4 groups: 1) breast development absent and uterus present (29 patients), 2) breast development present and uterus absent (9 patients), 3) both breast development and uterus absent (2 patients), and 4) both breast development and uterus present (22 patients). Patients in category 1 were diagnosed as having hypogonadotropic hypogonadism (low or normal follicle-stimulating hormone [FSH]) or gonadal dysgenesis (elevated FSH). Patients in category 2 were diagnosed as having congenital absence of the uterus (female range testosterone [T] or testicular feminization [male range T]). In the 2 patients in category 3, a 46,XY karyotype occurred with an enzyme defect (17,20 desmolase) in 1 and the other had agonadism. In category 4, 5 patients with elevated prolactin and a pituitary adenoma were identified. The remaining 17 patients were divided into 2 groups based on progesterone withdrawal bleeding. Patients who had withdrawal bleeding and had elevated luteinizing hormone level were diagnosed as having polycystic ovaries and patients with normal gonadotropins as having hypothalamic dysfunction. Patients who did not bleed were diagnosed as having hypothalamic failure (normal or low FSH) or primary ovarian failure (elevated FSH). This study demonstrates that it is possible to classify patients with primary amenorrhea into 4 useful diagnostic categories based on physical examination and a minimal laboratory investigation.