Abstract
Primary amenorrhoea may be defined as the absence of menses and secondary sexual characteristics by age 14, or the absence of menses regardless of the presence of secondary sexual characteristics by age 16. All patients require investigation. Classification of patients with primary amenorrhoea into four groups based on the presence or absence of breasts and the presence or absence of a uterus simplifies the investigations required to make a diagnosis. These four groups are: 1) breasts present, uterus present, 2) breasts absent, uterus present, 3) breasts present, uterus absent and 4) breasts absent, uterus absent. Patients in group one should be investigated and treated in the same manner as secondary amenorrhoea. Patients in group two have hypogonadotrophic hypogonadism or hypergonadotrophic hypogonadism. Patients in group three have either mullerian agenesis or androgen insensitivity syndrome (testicular feminization). Patients in group four are rare and are always 46 XY karyotype. They require further endocrinological testing and treatment. Aft patients with a Y chromosome and the presence of gonads require a gonadectomy because of the risk of malignancy. Aft patients who do not synthesize endogenous estradiol require estrogen replacement therapy, even at this young age, to prevent osteoporosis and, in many cases, to complete their pubertal development.
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