46,XY complete gonadal dysgenesis
Findings
No curated finding names 46,XY complete gonadal dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
Definition from the Mondo Disease Ontology (MONDO:0010765), read 2026-09-29. CC BY 4.0.
Features
4 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.
- Dysplastic testisHPOHP:0008733
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
- Male pseudohermaphroditismHPOHP:0000037
- Very frequent (80% to 99% of cases)
- Polycystic ovariesHPOHP:0000147
- Very frequent (80% to 99% of cases)
Genes
7 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.
- CBX2HGNC:1552
- Supportive · Orphanet · Autosomal dominant · 2021
- DHHHGNC:2865
- Supportive · Orphanet · Autosomal dominant · 2021
- DHX37HGNC:17210
- Supportive · Orphanet · Autosomal dominant · 2021
- MAP3K1HGNC:6848
- Supportive · Orphanet · Autosomal dominant · 2021
- NR5A1HGNC:7983
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (12)
- 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- 46,XY sex reversal 1
- 46,XY sex reversal 10
- 46,XY sex reversal 11
- 46,XY sex reversal 2
- 46,XY sex reversal 3
- 46,XY sex reversal 4
- 46,XY sex reversal 5
- 46,XY sex reversal 6
- 46,XY sex reversal 7
- 46,XY sex reversal 9
Other names
9 names
Resolves to: 46,XY complete gonadal dysgenesis
- Also called
- 46 XY gonadal dysgenesis46, XY CGD46, XY complete gonadal dysgenesis46, XY pure gonadal dysgenesis46,XY CGD46,XY gonadal dysgenesis46,XY pure gonadal dysgenesis46,XY SEX reversalSwyer syndrome