Updated: 9/18/2018

Pseudohermaphroditism

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Introduction
  • Mismatch in sex between the external genitalia and gonads (testes/ovaries)
    • named based on the genotype present
  • Female pseudohermaphrodite (XX)
    • due to excessive and inappropriate exposure to androgenic steroids during early gestation 
    • most commonly seen in
      • congenital adrenal hyperplasia
      • exogenous administration of androgens during pregnancy
  • Male pseudohermaphrodite (XY)
    • due to decreased effective testosterone concentration
    • most commonly due to androgen insensitivity syndrome
      • aka testicular feminization

Presentation
  • Physical exam
    • female pseudohermaphrodite (XX)
      • ovaries present
      • external genitalia is virilized or ambiguous
    • male pseudohermaphrodite (XY)
      • testes present
      • external genitalia is female or ambiguous
 

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