1.6 Abnormalities of the Penis and Urethra in Males

Congenital Abnormalities of the Bladder

1.6Abnormalities of the Penis and Urethra in Males

–It is extremely rare with an estimated incidence of 1 in 5.5 million boys,

–The first reported case was by Johannes Jacob Wecker in 1609.

–It is characterized by a male infant with two penises.

–Infants born with penile diphallia usually are accompanied by renal, vertebral, hindgut, anorectal or other congenital anomalies.

–There is also a higher risk of spina bifida.

–Duplication of the penis, or diphallia, is a rare anomaly resulting from incomplete fusion of the genital tubercle.

–There are two distinct forms of penile duplications:

•The most common form is associated with bladder-exstrophy complex.

–The patient exhibits a bifid penis, which consists of two separated corpora cavernosa that are associated with two separate hemiglans.

•The second form is a true diphallia

–This is an extremely rare congenital condition.

–There are several variations of this, 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.

•Megalopenis (Figs. 1.72 and 1.73):

–Megalopenis is an abnormally enlarged penis.

–It is seen in children with high level of testosterone production.

–It is seen also in patients with congenital adrenal hyperplasia.

•Micropenis:

–Micopenis is defined as an abnormally small but otherwise normally formed penis.

–The stretched length of the penis is less than 2.5 standard deviation below the mean.

–It is important to distinguish miscropenis from buried and webbed penis, which is usually of normal size.

–The most common causes of micropenis are:

•Hypogonadotropic hypogonadism

–Impaired secretion of gonadotrophinreleasing hormone (GnRH) by the hypothalamus occurs in some hypothalamic dysfunctions such as Kallmann’s syndrome and PraderWilli syndrome.

•Hypergonadotropic hypogonadism

–The testes are functionally impaired as in gonadal dysgenesis.

•Idiopathic micropenis

–There is normal hypothalamic- pituitary-testicular endocrine function.

•Congenital urethral stricture (Figs. 1.74 and 1.75):

–This is a rare congenital malformation.

–The two most common sites for congenital urethral stricture are:

•The fossa navicularis

•The membranous urethra

–The effect depends on the severity of the stricture.

–Severe strictures can affect the bladder and also lead to hydroureter and hydronephrosis which can damage the kidney from back pressure of urine.

•Posterior urethral valves (Figs. 1.76 and 1.77):

–This is a relatively common congenital malformation,

–It is seen in male neonates and infants.

–Posterior urethral valves are found at the distal prostatic urethra.

–They look like thin membranes and cause varying degrees of obstruction with backpressure effect on the bladder, ureters and kidneys.

•Hypospadias (Figs. 1.78, 1.79, 1.80, 1.81, and 1.82):

–This is one of the common urological malformations in males.

–It occurs in around 1 in 250–300 male births.

–The urethral meatus is found on the ventral surface of the penis.

–Around 7 % of patients have an additional family member with hypospadias.

–Hypospadias is classified based on the site of the abnormal urethral meatus into:

•Glanular

•Coronal

•Subcoronal

•Distal penile

•Midpenile

•Proximal penile

•Penoscrotal

•Perineal

–The site of the abnormal urethral meatus is variable but most cases occur on the distal penis or corona.

–Around 10 % of children with hypospadias also have cryptorchidism.

–9–15 % of cases also have an open processus vaginalis or inguinal hernia.

•Epispadias (Figs. 1.83, 1.84, 1.85, 1.86, 1.87, and 1.88):

• Epispadias is a relatively rare congenital malformation.

• It affects males more than females.

• Epispadias occurs in 1 in 120,000 males and 1 in 450,000 females.

• In epispadias, the urethral opening is abnormally located on the dorsal aspect of the penis.

• The extent of the defect can vary from a mild glandular defect to complete defects,

as those observed in bladder exstrophy and/or diastasis of the pubic bones.

•Females with epispadias have a bifid clitoris and separation of the labia.

•Incontinence is a common problem in those with severe epispadias.

Congenital Abnormalities of the Male

External Genitalia and Urethra

•Apenia

•Diphallia

•Megalopenis

•Micropenis

•Congenital urethral stricture

•Posterior urethral valves

•Hypospadias

•Epispadias

1.7Abnormalities of Female External Genitalia

•Distal urethral stenosis:

–This occurs in young girls with enuresis with slow and interrupted stream and recurrent infection.

Fig. 1.78 A clinical photograph showing hypospadias. Note the site of urethral opening which is located more proximally

–It is associated with secondary spasm of the external sphincter.

•Labial fusion:

–Fused labia minora are relatively common.

–The two labia minora are fused together.

–They can cause recurrent urinary infection as a result of obstruction to the urine flow.

–Treatment is simple by separating the two labia minor

–The use of estrogen cream can be prevent recurrence which is common in these patients.

•Female epispadias:

–Female epispadias is extremely rare.

Figs. 1.83 and 1.84 Clinical photographs showing glanular epispadias. Note the urethral opening on the dorsum of the glans. This is considered a rare variant of epi-

spadias. This type has an excellent prognosis as the urethral sphincter is normal in these patients

–The reported incidence is approximately 1 of 500,000–600,000 live girls.

–Epispadias in females is commonly associated with separated pubic bones.

–Female epispadias is characterized by:

•A bifid clitoris.

•Diastases of the corpora cavernosa.

•Flattening of the mons.

•Separation of the labia.

–The diagnosis of epispadias in females is always delayed as the defect may not be obvious.

–The bladder neck is almost always involved in these patients leading to urinary incontinence.

–Repair of female epispadias is much simpler.

–The two parts of the clitoris are sutured together and the urethra is positioned in its normal place.

–The prognosis of these patients is good and fertility is not affected.

•Clitoral hypertrophy (Figs. 1.89, 1.90, and 1.91):

–Clitoromegaly (or macroclitoris) is an abnormal enlargement of the clitoris.

–It is also called clitoromegaly.

–It is commonly congenital but can be acquired following the use of anabolic steroids, including testosterone.

–Clitoromegaly is commonly caused by fetal exposure to androgens as seen in those with congenital adrenal hyperplasia.

Figs. 1.87 and 1.88 Clinical photographs showing epispadias as part of the epispadias-exstrophy complex. In the first photograph, the bladder exstrophy is still not

repaired while in the second one bladder exstrophy closure was already done. The size of the phallus was increased by long acting testosterone

–Rarely, it may also be due to in utero exposure to progestational agents or idiopathic virilisation.

–Clitoromegaly should not be confused with dermoid cyst of the clitoris.

•Urethral prolapse:

–Urethral prolapse is a circular protrusion of the distal urethra through the external meatus.

–It is a rarely diagnosed in female children and commonly occurs in prepubertal females and postmenopausal women.

–Extremely rare, the urethral prolapse can become strangulated.

–Vaginal bleeding is the most common presenting symptom of urethral prolapse.