Studies of pathophysiology in primary amenorrhea

Patients with primary amenorrhea underwent stimulation with luteinizing hormone releasing hormone (LRH) before and after clomiphene administration to determine the maturational status of the hypothalamic-pituitary-gonadal axis, and to assess the development of feedback control mechanisms. Four patients with clinically recognizable conditions served as models. One patient had panhypopituitarism with undetectable baseline FSH and LH values, no response to LRH or clomiphene, and no detectable feedback control. One patient with a "specific" hypothalamic hypogonadotropism had low baseline gonadotropins with a normal response to LRH and no positive or negative feedback mechanisms reflected by no change in LRH response after clomiphene. A patient with delayed puberty due to low bodyweight had low FSH and LH baseline values and an "immature" response to clomiphene, characterized by lowered baseline gonadotropins and an increased peak LH following LRH stimulation. The fourth patient, with an adolescent polycystic ovarian syndrome, had a high baseline LH, normal FSH, hyperresponse to LRH, and a "mature feedback control" as evidenced by an increase in baseline FSH and LH, and a decrease in the LRH response while on clomiphene. The remaining patients showed inappropriate responses. They are regarded as having defects rather than dysfunctions, and the possible abnormalities are discussed in relation to the clinical findings.