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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Congenital malformations of penis and scrotum
Clinical signs
  • Hypospadia:
    • deficient closure of urethral sulcus in 11th – 12th week of gestation
    • urethra leads into any place on the lower side (ventral surface) of the penis from glans penis to perineum
    • ventral penis flexion is caused by fibrous band (chorda urethrae)
    • incidence is 1 : 350
    • more serious hypospadia (urethra leads to the scrotum, perineum) is a symptom of feminization and has to be differentiated from intersex
  • Epispadia:
    • congenital malformations of genital tubercle
    • urethra leads to the dorsum of the penis
    • see urinary bladder extrophy
  • Complete penoscrotal transposition (synonyms: prepenile scrotum, transposition of the penis)
    • abnormal development of indifferent external genitalia in 4th – 5th week of gestation
    • very rare defect, occurs sporadically
    • sometimes part of syndromes, e.g. Smith-Lemli-Opitz
Pictures

Hypospadia: SLOS, Macro, autopsy (72456)

Penoscrotal transposition; penis is under scrotum, serious hypospadia, associated with defects of kidneys and efferent urinary tracts, 24-week fetus: Penoscrotal transposition, Macro, autopsy (72454)

Penis transposition, perineal hypospadia: Penoscrotal transposition, perineal hypospadia, Macro, autopsy (72455)

Smith-Lemli-Opitz syndrome (SLOS)