Pigmented Scrotum (DD Ambiguous External Genitals)

geni_24a_n.jpg and geni_24b_n.jpg: Abnormal external genitals in a 5-year-old child. geni_24a_n.jpg: Inspection without special clinical skills: Apparent scrotum which attracts attention by its pigmentation and in which no distinct skin folds are recognizable; in addition, a slight penoscrotal transposition is present. Between the scrotal halves a penis is visible. geni_24b_n.jpg: After spreading and elevation of the penis, a V-shaped opening is visible between the two scrotal halves. geni_24a_n.jpg and geni_24b_n.jpg: The diagnosis is not posterior or scrotal hypospadias with a curvature of penis and partial penoscrotal transposition, but adrenogenital syndrome (= AGS) in a girl; AGS is a frequent type of female pseudo-hermaphrodidism. Most often a genetic enzyme defect of cortisol synthesis is present; the accumulation of androgenic steroids leads to a virilization of the external genitals of different degree. In fact, the pigmented seemingly scrotal skin corresponds to the labia majora, the penis to a virilized clitoris (Prader's stage III-IV), and the V-shaped opening to the orifice of the urogenital sinus. geni_zz2_n.jpg: This newborn has abnormal external genitals, too. At least the right scrotum is void, possibly the left one as well. The penis appears short and curved. On its ventral side, a cleft is visible. Altogether, it looks like scrotal hypospadias. In fact, this female newborn is affected with adrenogenital syndrome of stage IV. The missing testicles in the labioscrotal folds and the introduction of a probe through the visible opening (leading into a urethra as well as into a vagina) allow this diagnosis to be made. Notice the pigmented external genitals.