AMBIGUOUS GENITALIA  

Ambiguous genitalia are external genitalia that are not clearly male or female.

  • Cryptorchidism.
  • Clitoral hypertrophy:
    • Hypertrophy of the clitoris is observed in cases of fetal exposure to androgens.
    • The disorder is usually the result of congenital deficiencies of the adrenal enzymes of cortisol synthesis; more rarely, it is due to idiopathic virilization or exposure to progestational agents in utero.
    • Rarely, clitoral hypertrophy may be due to neurofibromas of the clitoral corpora has been described, including a case of localized neurofibromatous infiltration of the prepuce only.
    • Clitoromegaly.

 

Cliteromegaly in a normal 14 week fetus. In the coronal plane theclitoris may look like a penis, however the caudal notch in the sagittal plane confirms the female sex of the fetus.

 

 

  • Labial fusion.
  • Epispadias or hypospadias.
  • Ectopic labium and clitoral duplication:
    • Ectopic labium majus is a rare anomaly homologous to ectopic scrotum in the male.
    • It has been reported with renal agenesis or dysplasia and the VATER (vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia) association.
    • Clitoral duplication usually is seen in bladder exstrophy/epispadias complex in female children.

 

ETIOLOGY
  1. Abnormal hormonal levels.
    • Congenital adrenal hyperplasia.
    • Transplacental passage of hormones.
    • True hermaphroditism.
  2. Anomalies of external genitalia (not hormonally mediated).
    • Micropenis.

 

CLASSIFICATION

 

[more information]

  1. Female pseudohermaphroditism.
  2. Male pseudohermaphroditism.
  3. Mixed gonadal dysgenesis.
  4. True hermaphroditism (true intersex).

 

REFERENCES
  1. Merguerian PA, McLorie GA: Disorders of the female genitalia. In Kelalis PP, King LR, Belman AB, eds. Clinical Pediatric Urolology. Philadelphia, Pa: WB Saunders; 1992: 1084-110
  2. Nishimura K, Sugao H, Sato K: Neurofibroma of the clitoris. A case report. Urol Int 1991; 46(1): 109-11.
  3. Norbeck JC, Ritchey MR, Bloom DA: Labial fusion causing upper urinary tract obstruction. Urology 1993; 42(2): 209-11.
  4. Nussbaum AR, Lebowitz RL: Interlabial masses in little girls: review and imaging recommendations. AJR Am J Roentgenol 1983; 141(1): 65-71.