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1 OMIM reference -
1 associated gene
10 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
3 OMIM references -
3 associated genes
5 signs/symptoms
Testicular regression syndrome
46,XX testicular disorder of sex development

SRY SOX3
SOX9
SRY


COMMON
GENES
SRY



Citations in the biomedical literature:


Testicular regression syndrome
SRY
46,XX testicular disorder of sex development
SOX3 SOX9



Testicular regression syndrome
46,XX testicular disorder of sex development

Synonym(s):
- ETRS
- Embryonic testicular regression syndrome
- TRS
- Vanishing testes syndrome
- Vanishing testis 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 (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 -
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: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D058531


COMMON
SIGNS
- Ambiguous genitalia
- Late puberty / hypogonadism / hypogenitalism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia


Testicular regression syndrome
46,XX testicular disorder of sex development

Very frequent
- Autosomal recessive inheritance
- Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication
- Male pseudohermaphrodism / lack of virilisation
- Micropenis / small penis / agenesis
- Sterility / hypofertility
- Uterine / uterus / Fallopian tubes anomalies

Occasional
- Face / facial anomalies


Very frequent
- Abnormal / polycystic ovaries
- X-linked recessive inheritance