II. Pathophysiology

  1. Karyotype is 46XY

III. 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

IV. Signs

  1. External and internal genitalia are ambiguous
    1. Incompletely masculinized
  2. Gonads recognizable as Testes

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Related Studies

Ontology: Male Pseudohermaphroditism (C0238395)

Concepts Disease or Syndrome (T047)
MSH D058490
ICD10 Q56.1
SnomedCT 111332007
Dutch mannelijk pseudohermafroditisme, pseudohermafroditisme; bij man, pseudohermafroditisme mannelijk
German maennlicher Pseudohermaphroditismus, Pseudohermaphroditismus masculinus, Männlicher Pseudohermaphroditismus, Pseudohermaphroditismus des Mannes
Japanese 男性仮性半陰陽, ダンセイカセイハンインヨウ
Czech Mužský pseudohermafroditismus, mužský pseudohermafroditismus
English Pseudohermaphroditism male, Male pseudohermaphroditism NOS, Male Pseudohermaphroditism, Pseudohermaphroditism, Male, Male Pseudohermaphroditisms, Pseudohermaphroditisms, Male, male pseudohermaphroditism, Male pseudohermaphroditism, Merms, Male pseudohermaphroditism (disorder), pseudohermaphroditism; male
French Pseudohermaphrodisme masculin, Pseudo-hermaphrodisme masculin, Pseudo-hermaphrodisme mâle
Italian Pseudoermafroditismo maschile, Maschio XY con ridotta mascolinizzazione
Hungarian Férfi pseudohermaphroditismus, Férfi álkétneműség
Norwegian Mannlig pseudohermafrodittisme
Spanish merms, pseudohermafroditismo masculino (trastorno), pseudohermafroditismo masculino, Pseudohermafroditismo masculino
Portuguese Pseudo-hermafroditismo masculino