Abstract
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.
Keywords
primary amenorrhea - difference of sex development - intersex - complete androgen
insensitivity syndrome - Turner syndrome
