46,XY sex reversal 3
MONDO:0013066Mondo
Findings
No curated finding names 46,XY sex reversal 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Sex-limited expression
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.
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 3 of 3 reported patients
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 3 of 3 reported patients
- Sex reversalHPOHP:0012245
- 2 of 4 reported patients
- Ambiguous genitaliaHPOHP:0000062
- Occasional (5% to 29% of cases)
- Clitoral hypertrophyHPOHP:0008665
- 1 of 4 reported patients
- Exaggerated rugosity of the labia majoraHPOHP:0030913
- 1 of 4 reported patients
- Penoscrotal hypospadiasHPOHP:0000808
- 1 of 4 reported patients · Congenital onset
- Gonadal dysgenesisHPOHP:0000133
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NR5A1HGNC:7983
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
2 names
Resolves to: 46,XY sex reversal 3
- Also called
- 46,XY Sex reversal type 346XY sex reversal 3