Total 10 clinical symptoms reported for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Abnormality of the endocrine system |
An abnormality of the endocrine system.
|
Very frequent |
Ambiguous genitalia |
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.
Synonyms:Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia |
Very frequent |
Ambiguous genitalia, male |
Ambiguous genitalia in an individual with XY genetic gender.
Synonyms:Ambiguous genitalia in males |
Very frequent |
Bifid scrotum |
Midline indentation or cleft of the scrotum.
Synonyms:Cleft of scrotum; Scrotal cleft |
Very frequent |
Cryptorchidism |
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Synonyms:Cryptorchism; Undescended testes; Undescended testis |
Very frequent |
Decreased fertility |
Synonyms:Abnormal fertility; Decreased fertility |
Very frequent |
Hypoplasia of penis |
Synonyms:Underdeveloped penis |
Very frequent |
Perineal hypospadias |
Hypospadias with location of the urethral meatus in the perineal region.
|
Very frequent |
Small scrotum |
Apparently small scrotum for age.
Synonyms:Hypoplastic scrotum; Scrotal hypoplasia; Smaller than typical growth of scrotum; Underdeveloped scrotum |
Very frequent |
Urogenital sinus anomaly |
A rare birth defect in women where the urethra and vagina both open into a common channel.
|
Very frequent |