Overview
Disorders of the external genitalia are especially troubling for parents because of the unconscious emotional significance of these reproductive structures and, probably, the consequent impact of deformities on future generations.
Penile agenesis
Congenital absence of the penis, or aphallia, is a rare anomaly caused by developmental failure of the genital tubercle. Approximate incidence is 1 case per 30 million population. The phallus is completely absent, including the corpora cavernosa and corpus spongiosum; however, some children have been reported to have small portions of corpora cavernosa. Usually, the scrotum is normal and the testes are maldescended. The urethra opens at any point of the perineal midline from over the pubis to, most frequently, the anus or anterior wall of the rectum.
Penile duplication
Duplication of the penis, or diphallia, is another rare anomaly resulting from incomplete fusion of the genital tubercle. Two distinct forms of penile duplication are recognized. The most common form is associated with bladder-exstrophy complex.
The patient exhibits a bifid penis, which consists of 2 separated corpora cavernosa that are associated with 2 independent hemiglands. The second form, or true diphallia, is an extremely rare congenital condition. It presents in many ways, ranging from duplication of the glans alone to duplication of the entire lower genitourinary tract. The urethral opening can be in normal position or in a hypospadiac or epispadiac position. Associated anomalies of the GI, genitourinary, and musculoskeletal systems are expected. Because these anomalies are the principal causes of mortality, examining and treating patients for these conditions as soon as possible is important.
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