
Primary amenorrhea may be a feature or a sign of a difference in sex development, most often due to a congenital anatomic difference or hypergonadotropic hypogonadism. Therefore, history and physical exam are significant, including whether any variation in external genitalia was present at birth and a careful review of pubertal development. Further evaluation includes hormone measurement, imaging, and genetic assessment. Those with a disorder of sexual development should receive care through a multidisciplinary team with psychosocial support.
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