2. Sex Determination

2.4. Disruptions in Sex Determination

  • Turner syndrome (45, X0)
    • Streak ovaries, short stature, infertility.
  • Klinefelter syndrome (47, XXY)
    • Testicular atrophy, gynecomastia, infertility.
  • Androgen insensitivity syndrome (XY)
    • Testes present but external genitalia develop as female due to androgen receptor defect.