Primary Amenorrhea and Differences of Sex Development

Swetha Naroji, Veronica Gomez-Lobo, Courtney Finlayson*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)16-22
Number of pages7
JournalSeminars in reproductive medicine
Issue number1-2
StatePublished - Mar 1 2022


  • Turner syndrome
  • complete androgen insensitivity syndrome
  • difference of sex development
  • intersex
  • primary amenorrhea

ASJC Scopus subject areas

  • Physiology (medical)
  • Endocrinology
  • Obstetrics and Gynecology
  • Endocrinology, Diabetes and Metabolism
  • Reproductive Medicine


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