Phenotypes associated with the disease Testicular regression syndrome (ORPHA:983):
- Absent testis (HP:0010469): Testis not palpable in the scrotum or inguinal canal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:983)
- Abnormal morphology of female internal genitalia (HP:0000008): An abnormality of the female internal genitalia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)
- Abnormal male internal genitalia morphology (HP:0000022): An abnormality of the male internal genitalia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)
- Male pseudohermaphroditism (HP:0000037): Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)
- Agonadism (HP:0008633): Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)
- Hypoplasia of penis (HP:0008736). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)
- Aplasia/Hypoplasia of the testes (HP:0010468): Absence or underdevelopment of the testes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:983)