The development of the male reproductive organs is discussed
in Chapters 64 and 538.
Hypospadias is a congenital abnormality of the penis in which
underdevelopment of the anterior urethra results in an ectopic ventrally
located urethral meatus. Hypospadias is the most common congenital
abnormality of the penis, occurring in 1 in every 300 male children,
and it more common in infants of Jewish and Italian descent.
Hypospadias is classified depending on the location of the urethral
opening along the penile shaft (Fig. 476-2).16 Anterior hypospadias is
described as glandular (on the inferior surfaces of the glans),
coronal (in the balanopenile furrow), or distal (in the distal third
of the penile shaft). In middle hypospadias, the opening is in the middle
third of the penile shaft. Posterior hypospadias has an opening from
the perineum to the proximal third of the penile shaft. Chordee
or penile curvature refers to the downward curvature of the penis
that typically accompanies the more severe forms of hypospadias.
Standard classification of hypospadias does not take into account
the associated penile curvature. A patient with severe curvature
and an anterior urethral meatus may in fact require a more extensive
surgery to correct both the curvature and the abnormal urethra.
Classes of hypospadias by location of the meatus: (A)
anterior, on the inferior surface of the glans penis; (B)
coronal, in the balanopenile furrow; (C)
distal, on the distal third of the shaft; (D)
penoscrotal, at the base of the shaft in front of the scrotum; (E)
scrotal, on the scrotum or between the genital swellings; and (F)
perineal, behind the scrotum or genital swellings.
(From: Baskin S, Himes K, Colburn T. Hypospadias and endocrine
disruption: Is there a connection? Environ Health Perspect.
The cellular migration that leads to closure of the urethral
groove is caused by testosterone, with full enclosure of the penile
urethra by the second trimester of pregnancy. Hypospadias may be
due to genetic, endocrinologic, or environmental factors. There
is also a 20% chance that an infant born with hypospadias
has a family member with the condition. It is more common in twins compared
to a single birth. Maternal exposure to increased levels of progesterone,
common during in vitro fertilization (IVF), increases the risk for
hypospadias in the infant. Environmental exposure to estrogen during
urethral development may also be a risk factor; specifically, environmental
chemicals that act as antiandrogens and interfere directly with
the action of testosterone-related gene expression.17
The diagnosis of all but minor forms of hypospadias is easily
made on physical examination of newborn boys (Fig.
476-2). The characteristic dorsal hooded foreskin leads to
the diagnosis of hypospadias in most cases. Unilateral and especially
bilateral nonpalpable cryptorchidism associated with hypospadias should
be considered one of possible presentations of disorders of sexual
differentiation, and appropriate evaluation should be performed
(see Chapter 539). Routine imaging of the
upper urinary tract is unnecessary because abnormalities are uncommon
in children with isolated hypospadias. In severe cases of hypospadias,
a well-formed prostatic utricle may be present that usually causes
no complications, except for occasional urinary tract infections
and difficulty with catheter passage.
Importantly, neonatal circumcision should not be performed in
hypospadias patients because almost every hypospadias repair uses
the preputial tissues. The objectives of surgical repair of hypospadias
consist of adequately straightening the penis to provide for sexual
intercourse and voiding in the standing position, and creation of
a normally positioned urethral meatus.
Surgery should be performed between 6 and 18 months of age.16 This
takes advantage of superior healing during infancy, minimizes potential
psychologic disturbances associated with a later repair, and corrects
the defect prior to the start of toilet training. A one-stage procedure
for uncomplicated hypospadias is preferable, but for more severe
forms of penoscrotal or perineal hypospadias with severe ventral
curvature, a two-stage buccal or preputial mucosa graft repair may
be preferable. The most common complications after hypospadias repair
are urethrocutaneous urinary fistula, meatal stenosis, and recurrent
Penile torsion is the misalignment of the penile skin
with respect to the shaft and glans of the penis and can occur in either
a clockwise or counterclockwise fashion with or without hypospadias
or ventral curvature. Most rotations are less than 90 degrees; however,
occasionally, the torsion can exceed 180 degrees. Surgical correction
of penile torsion involves degloving of the penis and realignment
of the skin with the shaft of the penis.
Penile ventral curvature is usually present
with hypospadias but can occur in isolation. If associated with
hypospadias, ventral curvature is corrected at the time of the hypospadias
repair. If the curvature is the result of skin tethering, degloving
of the penis with ventral transposition of the dorsal foreskin will
result in straightening of the penis. If the penis is still curved,
this may be related to urethral tethering, or to intrinsic disproportion
between the dorsal and ventral aspects of the corporal bodies. Dorsal
plication of the tunica albuginea can be performed in such cases.
Rarely, the urethra may need to be mobilized or divided during reconstruction
to correct the ventral curvature.
Phimosis is a fibrotic contraction of the preputial
skin that does not permit retraction of the foreskin over the glans
penis. Iatrogenic injury from forcible and premature retraction of
the foreskin is a common cause of phimosis. Most foreskins should
easily become retractable by 4 years of age, although some individuals
do not experience full retraction of the normal foreskin until well
into their teens. Treatment with topical steroid creams (fluticasone
propionate 0.05% cream) twice daily effectively resolves
phimosis in a large percentage of children18; however,
if this is ineffective, circumcision may be necessary. Severe phimosis
can impede urinary flow with severe hypertrophy and remodeling of
the foreskin during urination.
Posthitis is inflammation and cellulites of the
foreskin. If the infection progresses to involvement of the glans,
it is referred to as balanitis. Treatment with
topical and oral antibiotics and steroid creams, as well as local
hygiene, is successful for treatment of most cases. Circumcision
should be considered where the inflammation and swelling have resolved,
but the scarring and constriction persist. Paraphimosis refers
to glandular entrapment by a tight phimotic prepuce proximal to
the coronal margin, causing progressive edema and swelling of the glans
and foreskin; the latter further complicating efforts to reduce the
foreskin to its normal position. Prompt reduction with sedation
or local anesthesia is required. If unsuccessful, a dorsal slit
or circumcision may be indicated.
Microphallus in the newborn is a normally formed penis that is
at least 2.5 standard deviations (SD) below the mean in size (ie,
< 1.9 cm in a term newborn) and is not associated with hypospadias
or ambiguous genitalia. The etiology of microphallus is believed
to be related either to a deficiency of gonadotropin secretion in
the last two trimesters of gestation or to a local end-organ insensitivity
to testosterone. The nature of the defect can be determined by the
infant’s response to gonadotropin stimulation. In most
cases, the hypothalamic-pituitary–end-organ axis distal
to the hypothalamus is intact, indicating that the hypothalamus
is the site of the primary defect. Central causes of microphallus
are Kallman syndrome, Prader-Willi syndrome, and panhypopituitarism. Early
treatment with local or systemic testosterone may prove beneficial
in increasing phallic growth. For infants who fail to respond or
have an androgen insensitivity syndrome, consideration may be given
to gender reassignment at an early age. Most cases of microphallus
seen in daily practice are misdiagnosed and include a webbed or
Priapism is a painful, unremitting erection in which the corpora
cavernosa are rigid, but the glans and corporus spongiosum remain
flaccid. Prolonged erection will result in corporal fibrosis and
impotence. Sickle cell disease is the most common cause of priapism
in children where nocturnal erections, dehydration, mild acidemia related
to hypoventilation, and masturbation are possible precipitating
factors.19 In priapism associated with sickle cell
disease, prompt treatment directed toward hydration, pain control,
oxygen therapy, and transfusions to increase the level of hemoglobin
A will usually result in detumescence. Other treatments include
corporal aspiration and irrigation with alpha-adrenergic agonists
(eg, phenylephrine) and caudal or epidural anesthesia. More recent
data suggest that prompt irrigation with alpha-adrenergic agonists
is efficacious in treatment of priapism in patients with sickle
cell anemia. Priapism unresponsive to medical treatment in the first
24 to 48 hours indicates the need for surgical intervention with
cavernoglandular shunting procedures. Impotence is not uncommon
as the result of priapism, regardless of whether surgical intervention
Less common causes of priapism include leukemia, blunt perineal
trauma, spinal cord injury, medications (trazodone, chlorpromazine,
clozapine, cocaine, and alcohol), and Fabry disease. Priapism is
distinctly uncommon in the newborn and may be due to polycythemia.20 Regardless
of cause, principles of management include treatment of any underlying
process, supportive measures, and shunt procedures when necessary.
Torsion of the spermatic cord and testes is a true emergency.
Testicular torsion presents at any age but is most frequent in the
neonatal period and in the preadolescent age group. Most testicular
torsions in the prepubertal age group occur within the tunica vaginalis
and are referred to as intravaginal torsion. This type of torsion
is believed to result from the high insertion of the tunica vaginalis
on the spermatic cord (bell clapper deformity), which allows for
testicular mobility that predisposes the testis to twisting.
Acute onset of pain associated with nausea and vomiting is the
prominent feature of testicular torsion. Scrotal edema and erythema
and loss of the cremasteric reflex with a high-lying, horizontal
testis are frequently found. A secondary hydrocele may be present.
As the acute scrotal inflammation continues, the intrascrotal contents become
confluent, making the diagnosis of torsion more difficult to differentiate
from other causes of acute scrotal swelling, such as torsion of
the appendix testis or epididymis, epididymoorchitis, inguinal hernia,
hydrocele, scrotal trauma, testicular tumor, varicocele, and Henoch-Schönlein
purpura, among others. An accurate diagnosis and urgent surgical
management are required for a favorable outcome. Time is a critical
factor because viability of the testis relates directly to the duration
of the torsion. If the diagnosis of testicular torsion is clinically
apparent, no further investigation is warranted. If the involved
testis is totally infarcted or necrotic, removal may be indicated.
Immediate exploration with detorsion of a viable testis and contralateral
testicular fixation are often performed. Color-flow Doppler ultrasonography
is the study of choice to try to differentiate testicular torsion from
other causes of acute scrotal pain. With testicular torsion, no
central parenchymal flow will be detected in the affected testis;
flow peripheral to the parenchyma is insufficient to
rule out torsion. Imaging studies should not delay surgical intervention.
Irreversible changes occur in testes within 4 to 6 hours, and after
24 hours of torsion, testicular infarction is the rule.
in the Neonate
Neonatal torsion occurs when the entire spermatic cord twists
outside the tunica vaginalis. It is referred to as extravaginal
torsion and occurs exclusively in neonates, often before birth.
The etiology may be related to the lack of testicular fixation in
the scrotum, allowing the testis, spermatic cord, and tunica vaginalis
to twist. The finding of a painless, swollen, discolored hemiscrotum
in the neonate is often diagnostic of spermatic cord torsion. Although
testicular salvage is rare when the condition is present at birth,
some pediatric urologists recommend immediate surgical exploration
with ipsilateral orchiectomy and contralateral orchiopexy for neonatal
extravaginal torsion. The incidence of bilaterality with extravaginal
torsion is significantly greater than with intravaginal torsion. The
resulting potential for anorchia is such that early fixation (orchidopexy)
of the contralateral gonad is recommended in most cases.
Torsion of the Testicular Appendages
Torsion of the appendix testes, a remnant of the cranial portion
of the müllerian duct, and torsion of the appendix epididymis,
a mesonephric tubule remnant, probably constitute the most common
cause of acute scrotal pain in children and occurs in prepubertal
boys between the ages of 3 and 13 years. Torsion of the appendix testes
is the most common, comprising more than 90% of torsed
appendages. Torsion of the testicular appendages can be clinically
indistinguishable from testicular torsion. The pain, however, of
a torsed testicular appendage tends to be less severe than that
of testicular torsion, not associated with nausea or vomiting, and
resolves over several days. Examination in the early stages may
reveal a palpable, tender nodule on the superior portion of the
testicle with blue discoloration (“blue dot” sign).
The testis is usually not enlarged or indurated early in the process.
As the inflammatory response progresses, swelling and erythema of
the scrotum may make differentiation between a torsed appendix testis
and a torsed testis impossible. Color-flow Doppler ultrasonography
can help distinguish torsion of the testicular appendages from torsion
of the testis. Almost all cases will resolve spontaneously with
conservative measures. Surgical exploration is indicated only if the
diagnosis is unclear or the pain is persistent or recurrent.
True undescended testes may be intra-abdominal or in the inguinal
canal. Ectopic testes are those that are distal to the external
inguinal ring but are not located in the scrotum. Although usually
located just above the scrotum, ectopic testes can be located in
the perineum or on the shaft of the penis. Undescended testes are
usually associated with a patent processus vaginalis and have a
4 to 10 times higher risk for developing malignancy, seminoma being the
most common tumor seen, especially when intra-abdominal.
Testicular descent occurs late in fetal development and is regulated
by many factors including shortening of the gubernaculum, intra-abdominal
pressure, and hormonal and neurologic influences. Insulinlike factor
3 and LGR8 (leucine-rich repeat-containing G protein-coupled receptor
8), acting as a hormone and a receptor, respectively, are involved
in control of the first phase of testicular descent via gubernacular
development. The most common genetic finding abnormalities associated
with cryptorchidism are Klinefelter syndrome and mutations in the INSL3 receptor
gene.21 Genetic alterations are not more frequent
in boys with low birth weight or low gestational age.
Cryptorchidism or incomplete testicular descent occurs in up
to 30% of premature infant boys. In boys born at term,
the incidence is 3% to 4%. By 1 year of life,
testes have descended in all but 0.3% of boys. Cryptorchidism
is the most common genital problem encountered in pediatric urology.
All general pediatric examinations should include documentation
of testicular position. Repeated examinations with the patient in
multiple positions are helpful. True undescended and ectopic testes
must be distinguished from retractile testes. Retractile testes
can be brought down to the bottom of the scrotum and are the result
of a hyperactive cremasteric reflex. Most retractile testes will
ultimately reside in the scrotum spontaneously, although a small
percentage can become entrapped in the inguinal region and require
More recent studies have suggested that the number of germ cells
in a cryptorchid testis is decreased after the seventh month of
age when compared to controls, favoring orchiopexy between 6 and
12 months of age, compared with the previous practice of undergoing
surgery between ages 1 and 2 years. Early treatment is predicated
on preserving fertility because testes remaining in an undescended
location beyond puberty will likely have absent spermatogenesis.
The goal of treatment is to relocate the undescended testis into
the scrotum, which can be achieved by either hormonal or surgical
treatment, although the latter is by far the preferred approach
in North America. Hormonal manipulation is based on the observation
that increased testosterone may encourage testicular descent. Intramuscular
human chorionic gonadotropin (hCG) is given in a series of injections.
The overall efficacy of hormonal treatment is less than 20% for
true undescended testes and is significantly dependent on pretreatment
testicular position.22,23 Surgical orchiopexy remains
the treatment of choice in most patients.
Palpable undescended testes are usually located within or emerging
from the inguinal canal and are best managed through a standard
inguinal incision. With bilateral nonpalpable testes, confirmation
that functioning testicular tissue is present is important before
a series of invasive diagnostic or therapeutic modalities are begun.
These patients should have measurement of serum follicle-stimulating
hormone (FSH) (high values correlate with anorchia in prepubertal
boys) and an hCG stimulation test (a testosterone spike in response
to hCG stimulation indicates the presence of at least one functional testis).
When the testis is in the abdomen, the first stage of surgery is
exploration to locate it, assess its viability, and determine the
safest way to maintain or establish the blood supply.
In approximately 60% of patients with a unilateral nonpalpable
testis, the gonad is absent. Laparoscopy can be useful in this setting
to help plan the surgical approach. Absence of a testis with the
gonadal vessels ending blindly, proximal to the internal ring without
a processus vaginalis (or hernia sac), is referred to as the vanishing
testicle syndrome (or testicular regression syndrome).
In these situations, further surgical inguinal exploration may be
unnecessary. Surgery becomes more complicated if the primary gonadal
blood supply is not ample and elastic enough to be stretched into
the scrotum. In these cases, some or all supply gonadal vessels may
need to be divided, with expectation of adequate collateral circulation
or, occasionally, with a need for anastomosis elsewhere to attain
an adequate blood supply. The major complication of all types of
orchiopexy is loss of the blood supply to the testis, resulting in
loss of the testis due to ischemic atrophy or fibrosis.
Inguinal bulges and scrotal masses in children are usually secondary to
hernias or hydroceles. These are discussed in Chapter 405.
A varicocele is an abnormal dilation and tortuosity of the testicular
vein and pampinoform plexus of the spermatic cord and is present
in approximately 15% of adolescent boys. It is unusual
prior to puberty and occurs almost exclusively on the left side.
Most varicoceles are usually asymptomatic and are discovered during routine
physical examination. The etiology is related to the unique anatomy
of the left testicular vein, which is longer than the right and
enters the left renal vein rather than the vena cava. The lack of
internal spermatic vein valves results in increased hydrostatic
pressure and engorgement of the veins surrounding the testis. This
causes an increase in scrotal temperature that can interfere with
normal testicular development.
There is no consensus as to the indications for varicocele repair
in adolescents. Although varicocele in adults is the most common
treatable cause of infertility, most men with a varicocele have
normal fertility. These findings raise questions as to whether varicocele
repair should be undertaken in adolescent or younger boys who are
too young to produce a semen specimen. Boys with atrophy or retarded
growth of the ipsilateral testis (compared to the contralateral
testis) should undergo varicocele repair, whereas boys with no discrepancy
in testicular size should be followed closely, and surgery performed
at the first sign of decreased ipsilateral testicular growth. In
theory, semen analysis can be followed if appropriate to provide
a specimen, as in adults, and repair of the varicocele performed
if the semen quality is considered abnormal. When varicocelectomy
is indicated, several options are available, including ligation
of the testicular artery and vein, artery-sparing ligation, and
laparoscopic and microsurgical techniques. More recent literature
suggests that the lowest recurrence rates are achieved with the
inguinal microsurgical approach ligating all structures except the
artery and lymphatics (to prevent postoperative hydrocele).
Urinary incontinence is a frequent problem in the pediatric population,
and the etiology is often a delay in maturation of the normal micturition pathways.
Bladder capacity and emptying rely on an intact nervous system.
Normal micturition and continence require coordination between the somatic
and autonomic nervous systems, which are responsible for the effective
function of the lower urinary tract. The cerebral cortex and brainstem
help coordinate normal voiding. Daytime continence is achieved before
nighttime control. By 4 to 5 years of age, the majority of children
develop control of urine. Bladder dysfunction may affect urinary
storage, emptying, or both. The term dysfunctional voiding is
characterized by incomplete relaxation or overactivity of the pelvic
floor muscles during micturition. It is often associated with bowel
dysfunction, and together, this association is often referred to
as the dysfunctional elimination syndrome. These
children often have recurrent urinary tract infection (UTI) and
varying degrees of constipation. The treatment should focus on proper
management of constipation and modification of drinking and voiding
habits to include adequate hydration and timed voiding. To achieve
good results, strong patient support with motivation of both child
and parents is essential.
The dysfunction of the lower urinary tract may present with a
spectrum of findings, including incontinence, recurrent urinary tract
infections, frequency, urgency, dysuria, hydronephrosis, vesicoureteral
reflux (VUR), and renal failure.
Evaluation and treatment for urinary incontinence due to bladder
dysfunction are usually not performed before 4 years of age. Although many
cases of daytime incontinence are behaviorally acquired, a complete
history focusing on the detailed pattern of wetting is most important in
determining the etiology of the patient’s incontinence,
and eliciting any neuroanatomic or structural causes. Normal volitional
voiding in females interspersed with continuous urinary leakage
is suggestive of an ectopic ureter. Voiding in boys or girls without
prior awareness suggests a sensory deficit, and visible behaviors
to delay or prevent voiding (eg, bounding up and down on the soles
of the feet, squatting) suggests the presence of detrusor instability.
Incontinence with stress (coughing, sneezing, lifting, and exercise)
and with giggling can also occur in children. The physical examination
should focus on findings of an occult neuropathic etiology for the
incontinence, suggested by finding a sacral dimple, café-au-lait
spots, or a hairy tuft over the sacrum. Urinalysis and urine culture should
be performed to rule out infection. All children with daytime incontinence
should have an ultrasound of the kidneys and bladder to exclude
an anatomic defect responsible for incontinence. Bowel habits should
always be documented. Urodynamic evaluation may be performed when
there is a suspicion of a neuropathic abnormality. Treatment options
include antibiotic prophylaxis, timed voiding, bowel management,
anticholinergic medications, imipramine, perineal exercises, and
biofeedback. A combination of timed voiding and anticholinergics
is the initial treatment for a sensory deficit and detrusor instability.
Giggling incontinence is difficult to treat but may respond to anticholinergic
medications. Perineal exercises and agents with alpha-adrenergic
agonist properties, such as imipramine, may be used to treat stress incontinence.
Nocturnal enuresis is the involuntary loss of urine during sleep
and may be either primary or secondary. The diagnostic and management
approaches are discussed in Chapter 467.