Pseudohermaphroditism

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