Female Pseudohermaphroditism

Aka: Female Pseudohermaphroditism

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II. 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

III. Signs

  1. Internal genitalia are female
  2. External genitalia are masculinized

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