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46,XX ovotesticular disorder of sex development
1 OMIM reference -
2 associated genes
27 connected diseases
14 signs/symptoms
Disease Type of connection
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
45,X / 46,XY mixed gonadal dysgenesis
Campomelic dysplasia
Testicular regression syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
46,XX gonadal dysgenesis
Blepharophimosis-intellectual deficit syndrome, MKB type
Cataract-microcornea syndrome
Cerulean cataract
FG syndrome type 1
Pulverulent cataract
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Cleidocranial dysplasia
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Melanoma of soft part
- 46,XX ovotesticular DSD
- True hermaphroditism

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D050090

Gene symbol UniProt reference OMIM reference
SOX9 P48436608160
SRY Q05066480000
Very frequent
- Abnormal / polycystic ovaries
- Ambiguous genitalia
- Bifid scrotum
- Horizontal folds on scrotum
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Hypospadias / epispadias / bent penis
- Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication
- Micropenis / small penis / agenesis
- Sterility / hypofertility
- True hermaphrodism
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Urogenital sinus
- Uterine / uterus / Fallopian tubes anomalies

- Chromosomal or genetic anomaly