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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
MSHD011545
EnglishFemale Pseudohermaphroditism, Ferms
Spanishferms, pseudohermafroditismo femenino
Parent ConceptsPseudohermaphroditism (C0033804), Congenital anomaly of ovary (C0158688), Congenital anomaly of female genital system (C0266365), Congenital anomaly of abdomen (C0740500), Congenital anomaly of body cavity (C1285201)
SourcesDXP, MSH, MTH, MTHICD9, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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