Sex

Female Pseudohermaphroditism

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Female Pseudohermaphroditism

  • Causes
  1. Deficiencies of enzyme activity
    1. 3B Hydroxysteroid dehydrogenase - Type 2
      1. Chromosome: 1p13.1
    2. 21-Hydroxylase
      1. Chromosome: 6p21.3
    3. 11B-Hydroxylase - Type 1
      1. Chromosome 8q21
  2. Deficiencies of placental or germ-line aromatase
  3. Maternal Androgen Excess
    1. Virilizing luteoma
    2. Congenital Adrenal Hyperplasia
    3. Ingestion of androgens, synthetic Estrogens
  4. Eponymic Syndromes
    1. Fraser syndrome
    2. VACTERL association
  • Signs
  1. Internal genitalia are female
  2. External genitalia are masculinized