ODCs

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5 OMIM references -
7 associated genes
9 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
10 signs/symptoms

46,XY partial gonadal dysgenesis

Testicular regression syndrome

Citations in the biomedical literature:

46,XY partial gonadal dysgenesis		Testicular regression syndrome
	Synonym(s): - 46,XY PGD - 46,XY partial testicular dysgenesis		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: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Ambiguous genitalia - Micropenis / small penis / agenesis

46,XY partial gonadal dysgenesis		Testicular regression syndrome
	Very frequent - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hypospadias / epispadias / bent penis - Mixed gonadal dysgenesis - Testis anomalies Occasional - Cortico-adrenal hypoplasia / insufficiency - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)		Very frequent - Autosomal recessive inheritance - Late puberty / hypogonadism / hypogenitalism - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - Male pseudohermaphrodism / lack of virilisation - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Sterility / hypofertility - Uterine / uterus / Fallopian tubes anomalies Occasional - Face / facial anomalies