46,XY partial gonadal dysgenesis
Findings
No curated finding names 46,XY partial gonadal dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.
Definition from the Mondo Disease Ontology (MONDO:0016674), read 2026-09-29. CC BY 4.0.
Features
43 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.
- Abnormal internal genitaliaHPOHP:0000812
- Very frequent (80% to 99% of cases)
- Abnormal labia morphologyHPOHP:0000058
- Very frequent (80% to 99% of cases)
- Abnormal scrotum morphologyHPOHP:0000045
- Very frequent (80% to 99% of cases)
- Abnormal sex determinationHPOHP:0012244
- Very frequent (80% to 99% of cases)
- Abnormal vagina morphologyHPOHP:0000142
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Very frequent (80% to 99% of cases)
- AzoospermiaHPOHP:0000027
- Very frequent (80% to 99% of cases)
- Clitoral hypertrophyHPOHP:0008665
- Very frequent (80% to 99% of cases)
- Decreased fertility in femalesHPOHP:0000868
- Very frequent (80% to 99% of cases)
- Decreased serum estradiolHPOHP:0008214
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
Show the remaining 31
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- Very frequent (80% to 99% of cases)
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- Very frequent (80% to 99% of cases)
- Female external genitalia in individual with 46,XY karyotypeHPOHP:0008730
- Very frequent (80% to 99% of cases)
- Gonadal dysgenesisHPOHP:0000133
- Very frequent (80% to 99% of cases)
- GynecomastiaHPOHP:0000771
- Very frequent (80% to 99% of cases)
- Hypergonadotropic hypogonadismHPOHP:0000815
Genes
8 genes
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.
- DHX37HGNC:17210
- Supportive · Orphanet · Autosomal dominant · 2021
- GATA4HGNC:4173
- Supportive · Orphanet · Autosomal dominant · 2021
- MAP3K1HGNC:6848
- Supportive · Orphanet · Autosomal dominant · 2021
- NR5A1HGNC:7983
- Supportive · Orphanet · Autosomal dominant · 2021
- SOX9HGNC:11204
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: 46,XY partial gonadal dysgenesis
- Also called
- 46,XY partial testicular dysgenesis46,XY PGD