46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
- Synonyms
- 46,XY SEX REVERSAL 8; 46,XY SEX REVERSAL 8, MODIFIER OF; MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Available tests
22 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Clinical features
Help- Abnormality of the genitourinary system
- Ambiguous genitalia
Ambiguous genitalia
- MedGen UID: 78596
- Concept ID: C0266362
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Male pseudohermaphroditism
Male pseudohermaphroditism
- MedGen UID: 68666
- Concept ID: C0238395
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Sex reversal
Sex reversal
- MedGen UID: 868596
- Concept ID: C4022995
- Finding: Finding
Abnormality of the genitourinary system
- Ambiguous genitalia
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