ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
10 signs/symptoms

46,XX ovotesticular disorder of sex development

Testicular regression syndrome

SOX9	(UniProt - OMIM)		SRY	(UniProt - OMIM)
SRY	(UniProt - OMIM)

Citations in the biomedical literature:

46,XX ovotesticular disorder of sex development		Testicular regression syndrome
	Synonym(s): - 46,XX ovotesticular DSD - True hermaphroditism		Synonym(s): - ETRS - Embryonic testicular regression syndrome - TRS - Vanishing testes syndrome - Vanishing testis syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric 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: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D050090		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Ambiguous genitalia - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - Micropenis / small penis / agenesis - Sterility / hypofertility - Uterine / uterus / Fallopian tubes anomalies

46,XX ovotesticular disorder of sex development		Testicular regression syndrome
	Very frequent - Abnormal / polycystic ovaries - Bifid scrotum - Horizontal folds on scrotum - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Hypospadias / epispadias / bent penis - True hermaphrodism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urogenital sinus Occasional - Chromosomal or genetic anomaly		Very frequent - Autosomal recessive inheritance - Late puberty / hypogonadism / hypogenitalism - Male pseudohermaphrodism / lack of virilisation - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia Occasional - Face / facial anomalies