Hypospadias

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Hypospadias is a birth defect of the urethra in the male that involves an abnormally
placed urethral meatus (opening). Instead of opening at the tip of the glans of the
penis, a hypospadic urethra opens anywhere along a line (the urethral groove) running
from the tip along the underside (ventral aspect) of the shaft to the junction of the
penis and scrotum or perineum. distal hypospadias may be suspected even in an
uncircumcised boy from an abnormally formed foreskin and downward tilt of the
glans.
!he urethral meatus opens on the glans penis in about "#$%"& of cases' these are
categori(ed as first degree hypospadias. Second degree (when the urethra opens on the
shaft), and third degree (when the urethra opens on the perineum, as in females) occur
in up to )# and *#& of cases respectively. !he more severe degrees are more likely to
be associated with chordee, in which the phallus is incompletely separated from the
perineum or is still tethered downwards by connective tissue, or with undescended
testes (cryptorchidism).
+ypospadias are among the most common birth defects of the male genitalia (second
to cryptorchidism), but widely varying incidences have been reported from different
countries, from as low as , in -### to as high as , in ,)" boys.
!here has been some evidence that the incidence of hypospadias around the world has
been increasing in recent decades. In the .nited /tates, two surveillance studies
reported that the incidence had increased from about , in "## total births (, in )"#
boys) in the ,0%#s to , in )"# total births (, in ,)" boys) in the ,00#s. lthough a
slight worldwide increase in hypospadias was reported in the ,01#s, studies in
different countries and regions have yielded conflicting results and some registries
have reported decreases.
Causes
2ost hypospadias are sporadic, without inheritance or family recurrence. For most
cases, no cause can be identified though a number of hypotheses related to inade3uate
androgen effect, or environmental agents interfering with androgen effect, have been
offered. mong the suspected environmental agents have been various chemicals,
sometimes termed endocrine disruptors, that interact with steroid receptors. 4utative
endocrine disruptors include phthalates, 55!, and 467.
4renatal testosterone, converted in the genital skin to dihydrotestosterone, causes
migration of skin fibroblasts to fully enclose the urethral groove in fetal males,
normally resulting in an enclosed penile urethra by the second trimester of pregnancy.
Failure of ade3uate prenatal androgen effect is therefore thought to be involved in
many cases, making hypospadias a very mild form of interse8 (undervirili(ation of a
genetic male). /ince postnatal androgen deficiency can only be demonstrated in a
minority of cases, it has been proposed that transient deficiency of testosterone can
occur during critical periods of fetal genital development, due to elevation of anti$
m9llerian hormone or more subtle degrees of pituitary$gonadal dysfunction. 2ore
recently, abnormalities of transcription factors have been proposed.
In animals, several teratogenic drugs or chemicals can cause hypospadias by
interfering with androgen action in the embryo. /peculation that environmental
agents$$ endocrine disruptors$$ might be interfering with human hormone systems has
not been proven. !he agents that have caused hypospadias in a small number of boys
have been maternal use of synthetic progestins and finasteride in the first two
trimesters of pregnancy.
In a minority of cases a postnatal deficiency of, or reduced sensitivity to, androgens
(testosterone and dihydrotestosterone) can be demonstrated. !hese are often
associated with a chordee, and in severe cases a residual perineal urogenital opening
and small phallus. !his combination of birth defects is referred to as pseudovaginal
perineoscrotal hypospadias and is part of the spectrum of ambiguous genitalia.
!reatment with testosterone postnatally does not close the urethra.
:enetic factors are likely involved in at least some cases, as there is about a %&
familial recurrence risk.
;are iatrogenic urethral injuries similar to hypospadias after procedures such as
surgery, catheteri(ation, or circumcision have been reported.
Treatment
First degree hypospadias are primarily a cosmetic defect and have little effect on
function e8cept for direction of the urinary stream. If uncorrected, a second or third
degree hypospadias can make male urination messy, necessitate that it be performed
sitting, impair delivery of semen into the vagina (possibly creating problems with
fertility), or interfere with erections. In developed countries, most hypospadias are
surgically repaired in infancy. /urgical repair of first and second degree hypospadias
is nearly always successful in one procedure, usually performed in the first year of life
by a pediatric urologist.
When the hypospadias is third degree, or there are associated birth defects such as
chordee or cryptorchidism, the best management can be a more complicated decision.
karyotype and endocrine evaluation should be performed to detect interse8
conditions or hormone deficiencies. If the penis is small, testosterone or human
chorionic gonadotropin (h6:) injections may be given to enlarge it prior to surgery.
/urgical repair of severe hypospadias may re3uire multiple procedures and mucosal
grafting. 4reputial skin is often used for grafting and circumcision should be avoided
prior to repair. In a minority of patients with severe hypospadias surgery produces
unsatisfactory results, such as scarring, curvature, or formation of urethral fistulas,
diverticula, or strictures. fistula is an unwanted opening through the skin along the
course of the urethra, and can result in urinary leakage or an abnormal stream.
diverticulum is an <outpocketing< of the lining of the urethra which interferes with
urinary flow and may result in post$urination leakage. stricture is a narrowing of the
urethra severe enough to obstruct flow. ;educed complication rates even for third
degree repair (e.g., fistula rates below "&) have been reported in recent years from
centers with the most e8perience, and surgical repair is now performed for the vast
majority of infants with hypospadias.
7ecause of the difficulties and lower success rates of surgical repair of the most
severe degrees of undervirili(ation, some of these genetically male but severely
undervirili(ed infants have been assigned and raised as girls, with femini(ing surgical
reconstruction. =pinion has shifted against this approach in the last decade because
adult se8ual function as a female has often been poor, and development of a male
gender identity despite female se8 assignment and rearing, has occurred in some >?
children after reassignment for a more severe type of genital birth defect, cloacal
e8strophy.
Associated birth defects
2ild hypospadias most often occurs as an isolated birth defect without detectable
abnormality of the remainder of the reproductive or endocrine system. +owever, a
minority of infants, especially those with more severe degrees of hypospadias will
have additional structural anomalies of the genitourinary tract. .p to ,#& of boys
with hypospadias have at least one undescended testis, and a similar number have an
inguinal hernia. n enlarged prostatic utricle is common when the hypospadias is
severe (scrotal or perineal), and can predispose to urinary tract infections, pseudo$
incontinence, or even stone formation.
Epispadias
much rarer and unrelated type of urethral malformation is an epispadias. !his is not
a problem of the urethral groove or meatus, but a failure of midline penile fusion
much earlier in embryogenesis. n isolated opening of the dorsal (<top<) side of the
penis is rare, and most of these children have much more severe defects, involving a
small and bifid phallus with bladder e8strophy or more severely, cloacal e8strophy
involving the entire perineum. !he cause of this defect of early embryogenesis is
unknown but does not involve androgens.