Gonadal Dysgenesis

• Mixed Gonadal Dysgenesis
  • 2nd most common cause ambiguous genitalia in newborns
  • Chromosomes: Mosaic XO/XY  (Turner/Boy)
  • Unilateral streak gonad, contralateral testis
  • 1/3 have Turner’s phenotype
  • 25% develop gonadal tumors
  • Seminoma, gonadoblastoma, embryonal CA
• Pure Gonadal Dysgenesis
  • Normal female external genitalia
  • Internal: streak gonads
  • 46 XX or 46 XY
  • Gonadectomy b/c of CA risk

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