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46,XX testicular disorder of sex development

3 OMIM references -
3 associated genes
39 connected diseases
5 signs/symptoms

Disease	Type of connection
46,XX ovotesticular disorder of sex development
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
45,X / 46,XY mixed gonadal dysgenesis
Campomelic dysplasia
Panhypopituitarism
Septo-optic dysplasia
Testicular regression syndrome
X-linked congenital generalized hypertrichosis
X-linked intellectual deficit with isolated growth hormone deficiency
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
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Melanoma of soft part
Morning glory syndrome
Peters anomaly
WAGR syndrome

Synonym(s): - 46,XX testicular DSD - De la Chapelle syndrome - XX, male syndrome

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare infertility - Rare urogenital disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: (no data available)		External references: 3 OMIM references - 1 MeSH reference: D058531

Gene symbol	UniProt reference	OMIM reference
SOX3	P41225	313430
SOX9	P48436	608160
SRY	Q05066	480000

Very frequent

- Abnormal / polycystic ovaries
- Ambiguous genitalia
- Late puberty / hypogonadism / hypogenitalism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance