46,XX sex reversal 1
- Synonyms
- 46,XX SEX REVERSAL, SRY-POSITIVE; SRY-positive 46,XX testicular disorder of sex development
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Emmanuèle C Délot
- Eric J Vilain
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (33 available)
Cytogenetics Tests
Clinical features
Help- Abnormality of the breast
- Gynecomastia
Gynecomastia
- MedGen UID: 6694
- Concept ID: C0018418
- Finding: Disease or Syndrome
Abnormality of the breast
- Gynecomastia
- 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
- Azoospermia
Azoospermia
- MedGen UID: 2150
- Concept ID: C0004509
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Bicornuate uterus
Bicornuate uterus
- MedGen UID: 78599
- Concept ID: C0266387
- 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
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Ovotestis
Ovotestis
- MedGen UID: 1634511
- Concept ID: C4551490
- 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
- True hermaphroditism
True hermaphroditism
- MedGen UID: 78595
- Concept ID: C0266361
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Azoospermia
- Growth abnormality
- Tall stature
Tall stature
- MedGen UID: 69137
- Concept ID: C0241240
- Finding: Finding
Growth abnormality
- Tall stature
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