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Male Pseudohermaphroditism

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  1. Pathophysiology
    1. Karyotype is 46XY
  2. Causes
    1. Testicular Dysgenesis
      1. Associated with degenerative renal disease
    2. Disorders of androgen synthesis
      1. Leydig cell hypoplasia
      2. Abnormal Cholesterol transport
      3. Deficiencies of steroidogenic enzyme activity
    3. Abnormal androgen receptor
    4. Maternal Estrogens or Progestins
    5. Eponymic syndromes
    6. Persistent Mullerian Duct syndromes
    7. Vanishing Testes Syndromes
  3. Signs
    1. External and internal genitalia are ambiguous
      1. Incompletely masculinized
    2. Gonads recognizable as Testes

Male Pseudohermaphroditism (C0238395)

ConceptsDisease or Syndrome (T047)
ICD9752.7
MSHD011545
EnglishMale Pseudohermaphroditism, Merms
Spanishmerms, pseudohermafroditismo masculino
Parent ConceptsPseudohermaphroditism (C0033804)
SourcesDXP, MSH, MTHICD9, OMIM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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