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