46,XX sex reversal 2
MONDO:0010218Mondo
Findings
No curated finding names 46,XX sex reversal 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AzoospermiaHPOHP:0000027
- 3 of 3 reported patients
- Decreased serum testosterone concentrationHPOHP:0040171
- 2 of 2 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 2 of 2 reported patients
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 2 of 2 reported patients
- InfertilityHPOHP:0000789
- 5 of 5 reported patients
- Non-obstructive azoospermiaHPOHP:0011961
- 2 of 2 reported patients
- Sex reversalHPOHP:0012245
- 3 of 3 reported patients
- Abnormal skeletal morphologyHPOHP:0011842
- 0 of 2 reported patients
Where it sits
Other names
2 names
Resolves to: 46,XX sex reversal 2
- Also called
- 46,XX Sex reversal type 246XX sex reversal 2