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46,XX testicular disorder of sex development
3 OMIM references -
3 associated genes
5 signs/symptoms
COMMON GENES: 1
Panhypopituitarism
2 OMIM references -
2 associated genes
No signs/symptoms info
46,XX testicular disorder of sex development
Panhypopituitarism

SOX3
(UniProt - OMIM)
 PROP1
(UniProt - OMIM)
SOX9
(UniProt - OMIM)
 SOX3
(UniProt - OMIM)
SRY
(UniProt - OMIM)

COMMON
GENES 		SOX3


Citations in the biomedical literature:


46,XX testicular disorder of sex development
SOX3 SOX9 SRY
Panhypopituitarism
PROP1



46,XX testicular disorder of sex development
Panhypopituitarism

Synonym(s):
- 46,XX testicular DSD
- De la Chapelle syndrome
- XX, male syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
3 OMIM references -
1 MeSH reference: D058531
External references:
2 OMIM references -
No MeSH references
46,XX testicular disorder of sex development

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



Panhypopituitarism

(no data available)