II. Pathophysiology
- Karyotype is 46XY
III. Causes
- Testicular Dysgenesis
- Associated with degenerative renal disease
- Disorders of androgen synthesis
- Leydig cell hypoplasia
- Abnormal Cholesterol transport
- Deficiencies of steroidogenic Enzyme Activity
- Abnormal androgen receptor
- Maternal Estrogens or Progestins
- Eponymic syndromes
- Persistent Mullerian Duct syndromes
- Vanishing Testes Syndromes
IV. Signs
- External and internal genitalia are ambiguous
- Incompletely masculinized
- Gonads recognizable as Testes