Ambiguous genitalia Sex Chromosome DSD 46 XY DSD 46 XX DSD Disorder of gonadal development Turner’s (45 X) Mixed gonadal dysgenesis (45X, 46 XY) Androgen Excess Klinefelter’s (47 XXY) Chimerism (46XX,46XY) Testicular DSD Gonadal dysgenesis Ovo- testes Disorder of gonadal development Disorder of androgen Synthesis or action Fetal Origin Placental or Maternal Origin Congenital Adrenal Hyperplasia (CYP21A) Glucocorticoid receptor mutation Ovo-testes Gonadal dysgenesis LH receptor mutation Congenital Adrenal Hyperplasia (HSD3B2) Androgen Insensitivity Syndrome Drugs or environmental modulators Aromatase Deficiency Maternal virilizing tumors Androgenic Drugs Adapted from Table 22-3, Chapter 22. Kronenberg: Williams Textbook of Endocrinology, 11th ed.