Hypospadia

Definition
Hypospadias is an abnormality of anterior urethral and penile
development. The urethral opening is ectopically located on the ventral
aspect of the penis proximal to the tip of the glans penis, which, in this
condition, is splayed open.
The urethral opening may be located as proximal as in the scrotum or
perineum. The penis will commonly have associated ventral shortening
and curvature, called chordee, with more proximal urethral defects.
Epidemiology
•
Hypospadias occurs in approximately 1 in every 250 male births in the
United States.
•
The incidence of hypospadias is higher in whites than in blacks
•
A familial trend has been noted with hypospadias. The prevalence of
hypospadias in male children of fathers with hypospadias has been
reported as 8%, and 14% of brothers of children with hypospadias are
also affected. The inheritance is likely polygenic.
Etiology
Genetic factors
•

A genetic predisposition has been suggested by the eightfold increase

in incidence of hypospadias among monozygotic twins as compared
with singletons. This finding may relate to the demand of two fetuses
for human chorionic gonadotropin (HCG) produced by a single
placenta, with an inadequate supply during critical periods of urethral
development.
Endocrine factors
•

A decrease in available androgen or an inability to use available

androgen appropriately may result in hypospadias.
Mutations in the 5-alpha reductase enzyme, which converts
testosterone (T) to the more potent dihydrotestosterone (DHT), have
been associated with hypospadias.
Although androgen receptor deficits, quantitative or qualitative, have
been shown to result in hypospadias, this is thought to be relatively
uncommon, and other factors are more commonly implicated.
Environmental factors
•

Environmental substances with significant estrogenic activity are

ubiquitous in industrialized society and are ingested as pesticides on
fruits and vegetables, endogenous plant estrogens, in milk from
lactating pregnant dairy cows, and in pharmaceuticals such as
phthalates.

The association of hypospadias with increasing parity, increasing

maternal age, and low birth weight noted in some studies may reflect a
lifelong exposure to environmental disruptors and a possible
cumulative effect. 
Pathogenesis & Pathophysiology
Hypospadias is a congenital defect that is thought to occur during the
embryologic development of the urethra, between 8 and 20 weeks'
gestation. The external genital structures are identical in males and
females until 8 weeks, after which time the genital structures develop a
masculine phenotype in males, primarily under the influence of
testosterone and its byproduct dihydrotestosterone. As the phallus
grows, the open urethral groove extends from its base to the level of
the corona.
The location of the abnormal urethral meatus classifies the
hypospadias. Descriptive locations in this classification include the
following:
Anterior (glanular and subcoronal)
•

Middle (distal penile, midshaft, and proximal penile)

•

Posterior (penoscrotal, scrotal, and perineal)

•

The location is anterior in 50% of cases, middle in 20%, and posterior in

30%; the subcoronal position is the most common overall
Diagnosis
•
Although the appearance of hypospadias has been identified with
both antenatal fetal ultrasonography (USG) and magnetic resonance
imaging (MRI), the diagnosis is generally made upon examination of
the newborn infant. 
•
A dorsal hood of foreskin and glanular groove are evident, but upon
closer inspection, the prepuce is incomplete ventrally and the
urethral meatus is noted in an abnormal proximal location.
Management
•
Because most patients with hypospadias are surgically treated at a
very young age, parental teaching and reassurance is very important
to ensure a satisfactory experience for the families of these patients.
Evidence suggests that online support groups can play an important
role in how parents and patients cope with hypospadias.