46,XY sex reversal 3
- Synonyms
- 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE; 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED; DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED; NR5A1-Related 46,XY CGD; NR5A1-related 46,XY complete gonadal dysgenesis; SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (39 available)
Clinical features
Help- Abnormality of the endocrine system
- Elevated circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level
- MedGen UID: 867192
- Concept ID: C4021550
- Finding: Finding
Abnormality of the endocrine system
- Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level
- MedGen UID: 868698
- Concept ID: C4023101
- Finding: Finding
Abnormality of the endocrine system
- Elevated circulating follicle stimulating hormone level
- Abnormality of the genitourinary system
- Ambiguous genitalia
Ambiguous genitalia
- MedGen UID: 78596
- Concept ID: C0266362
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Clitoral hypertrophy
Clitoral hypertrophy
- MedGen UID: 57848
- Concept ID: C0156394
- Finding: Finding
Abnormality of the genitourinary system
- Exaggerated rugosity of the labia majora
Exaggerated rugosity of the labia majora
- MedGen UID: 927583
- Concept ID: C4293674
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Gonadal dysgenesis
Gonadal dysgenesis
- MedGen UID: 9075
- Concept ID: C0018051
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Penoscrotal hypospadias
Penoscrotal hypospadias
- MedGen UID: 105291
- Concept ID: C0452147
- 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
- Uterine hypoplasia
Uterine hypoplasia
- MedGen UID: 120575
- Concept ID: C0266399
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Ambiguous genitalia
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