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Female Pseudohermaphroditism

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

Female Pseudohermaphroditism (C0238394)

ConceptsCongenital Abnormality (T019) , Disease or Syndrome (T047)
ICD9752.7
EnglishFemale Pseudohermaphroditism, Ferms
Spanishferms, pseudohermafroditismo femenino
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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