Abnormalities of the penis occur frequently. The recognition and accurate identification of these conditions are important because some of these abnormalities carry significant consequences for the patient and family. Genital anomalies are often isolated problems, although they may occur as a component of a congenital syndrome, such as Noonan, Opitz, Prader–Willi, Robinow, Beckwith–Wiedemann, or Trisomy 18 syndrome.

Evaluation for genital anomalies begins in the neonatal period with a careful examination of the genitalia. Systematically, the examination of the genitalia should assess the appearance of the prepuce (i.e., normal or incomplete), the location of the urethral meatus if visible, the size and appearance of the penis, the presence of penile chordee or torsion, the appearance of the scrotum, and the location and the size of the testes. Palpation of the scrotum or inguinal area to assess for two testes in the male and assessment of the corporal integrity of the penis are two important diagnostic maneuvers.

• Phimosis is a condition in which the prepuce cannot be retracted. It is considered a normal condition in infancy and childhood; hence, it is often referred to as “physiological phimosis.” The timing for natural retraction of the prepuce varies, but most uncircumcised boys will have a retractile prepuce by 5 years of age. A “pathological phimosis” occurs when the distal portion of the prepuce is injured, either by forceful retraction or by infection, which leads to the development of a scar. The constricting cicatrix prevents retraction of the prepuce. A pathological phimosis always warrants treatment.

• Penile adhesions are extremely common. They are universally present in uncircumcised boys prior to natural retraction of the prepuce, and may develop secondarily in up to 60% of boys after undergoing a neonatal circumcision. The adhesions occur between the glans and the adjacent inner mucosal surface of the prepuce, and most are expected to separate naturally with time. The two physiological processes that aid in the natural separation of adhesions are penile erections and formation of smegma between the inner mucosal surface of the prepuce and the glans. Penile erections stretch the glans away from the inner prepuce, eventually promoting separation of these two surfaces. Smegma, though often mistaken as purulent drainage, is a normal physiological process of shedding of skin and oils or sebaceous substance. This cheesy material accumulates between the surfaces of the inner prepuce and adjacent glans, and cause separation of these surfaces. Most mucosal adhesions do not warrant intervention, and education of the family on the normal occurrence of these benign attachments is very important to avoid unnecessary anxiety or forceful separation.

• A hidden penis refers to a phallus that does not protrude beyond the surface of the abdominal wall. This is mainly due to subcutaneous fat displacing the penile skin away from the shaft, causing the penis to slide away from the body surface. In contrast, a concealed penis is buried by a cicatrix of the prepuce. This can occur following neonatal circumcision in males who have limited penile skin, or when an excessive amount of penile skin is removed during circumcision. If the glans recedes behind the healing preputial wound, then the scar will contract and bury the penis. In some patients, the concealed penis may be managed non-surgically by the application of topical corticosteroids; however, many of these patients will require a surgical release with revision of the circumcision.

• Hypospadias is a frequent anomaly, occurring in 1/300 live male births. Elements of hypospadias include a hooded prepuce, a ventral urethral meatus, and ventral penile skin hypoplasia that contributes to chordee, or a ventral curvature. The severity is variable, with most boys (75%) having a distal abnormality—glanular, coronal, or distal shaft. In more severe cases, profound androgenic failure may be evident, with the findings of a microphallus, bifid scrotum, and penoscrotal transposition.

• Chordee, present with or without hypospadias, is a ventral curvature of the penis. Most patients with hypospadias have chordee, partially because of the asymmetry between the normal dorsal penile skin and the hypoplastic ventral penile skin. This is referred to as cutaneous chordee. In more severe cases, as with fibrous chordee, the curvature may involve the ventral surface of the penis, including the corpus spongiosum and corpora cavernosa in addition to the cutaneous abnormality.

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