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Case Presentation and Case Discussion 46XY DSD

  • A 18 yr-old girl with complaint of primary amenorrhea presented at our clinic.
  • According to her mother her genitalia has some sort of abnormality since birth. At the age of 10 her breast enlargement was started and pubic and axillary hair but menstruation didn’t occurred.
  • She reported that by the age of  15 years her linear growth became more than her peers which was bothersome.
  • By the age of 17 still no menstruation  has occurred. She started to have mild pelvic pains and it was not periodic.
  • After 1 year and at the age of 18 she presented for workup of her problems.
  • She also reports feeling of two small mass in her inguinal region in both side during urination since she remember.
  • Past history:
    • Not  significant
  • DH: neg.
  • FH:
    • Parents are not related.
    • No history of infertility or similar problem in her maternal or paternal relatives.