II. Pathophysiology
- Karyotype is 46XY
III. Causes
- Testicular Dysgenesis
- Associated with degenerative renal disease
- Disorders of androgen synthesis
- Leydig cell hypoplasia
- Abnormal Cholesterol transport
- Deficiencies of steroidogenic Enzyme Activity
- Abnormal androgen receptor
- Maternal Estrogens or Progestins
- Eponymic syndromes
- Persistent Mullerian Duct syndromes
- Vanishing Testes Syndromes
IV. Signs
- External and internal genitalia are ambiguous
- Incompletely masculinized
- Gonads recognizable as Testes
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Related Studies
| 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, ﾀﾞ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 |
