Ultrasound Obstet Gynecol 2011; 37: 678–683

Published online 5 May 2011 in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/uog.8862

Congenital megalourethra: prenatal diagnosis and

postnatal/autopsy findings in 10 cases
H. AMSALEM*, B. FITZGERALD†, S. KEATING†, G. RYAN*, J. KEUNEN*, J. L. PIPPI SALLE‡,
H. BERGER§, H. AIELLO¶, L. OTAÑO¶, F. BERNIER**and D. CHITAYAT††
*Fetal Medicine Unit, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University
of Toronto, Toronto, Ontario, Canada; †Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto,
Toronto, Ontario, Canada; ‡Department of Paediatric Urology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario,
Canada; §Department of Obstetrics and Gynaecology, St. Michael Hospital, University of Toronto, Toronto, Ontario, Canada; ¶Unidad de
Medicina Fetal Servicio de Obstetricia, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina; **Department of Medical Genetics,
University of Calgary, Calgary, Canada; ††The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and
Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada

K E Y W O R D S: corpora cavernosa; corpora spongiosa; fetus; LUTO; megacystis; megalourethra; oligohydramnios; renal failure

ABSTRACT renal dysfunction and sexual dysfunction is expected.

Objective Congenital megalourethra is a rare urogenital
malformation characterized by dilation and elongation of
the penile urethra associated with absence or hypoplasia
of the corpora spongiosa and cavernosa. Postnatal
complications include voiding and erectile dysfunction
as well as renal insufficiency and pulmonary hypoplasia.
To date, only a few prenatally diagnosed cases have been
reported. We report on 10 cases diagnosed prenatally and
their postnatal/autopsy findings.
Methods The study involved retrospective chart review
of all cases diagnosed antenatally in three tertiary care
centers over 5 years. Antenatal ultrasound images and
medical records from obstetrics, genetics, urology and
nephrology were reviewed.
Results Ten fetuses with megalourethra were identified
at a median gestational age of 19 (range, 13–24)
weeks and all were confirmed postnatally or at autopsy.
Three pregnancies were terminated and seven continued.
All cases presented with a distended bladder and
megalourethra and all cases had normal karyotype. Of
seven liveborn babies, one died neonatally of pulmonary
hypoplasia. All six infants alive at the time of writing had
a dysfunctional urethra and three suffered from impaired
or end-stage renal disease. Associated anomalies were
found in half of the cases.
Conclusion Congenital megalourethra is caused by
abnormal development or hypoplasia of the penile
erectile tissue, secondary to distal urethral obstruction.
When the amniotic fluid volume is normal, survival is
possible. However, all liveborn infants have voiding and
Megalourethra should be considered in all male fetuses
presenting prenatally with megacystis and detailed fetal
ultrasonography should look for an elongated and/or
distended phallic structure as well as any associated
anomalies. Copyright  2011 ISUOG. Published by John
Wiley & Sons, Ltd.
INTRODUCTION
Congenital megalourethra is a rare form of functional
obstructive uropathy caused by dysgenesis of the penile
corpora cavernosa and spongiosa which results in
extensive dilatation of the penile urethra1 . This condition
was originally classified into two variants: scaphoid and
fusiform2 . Patients with the scaphoid type were found to
have hypoplasia of the corpus spongiosum with bulging
of the ventral urethra, while patients with the fusiform
variant were found to have deficiency of both corpora
spongiosa and cavernosa with circumferential expansion
of the urethra3 . The first case of congenital megalourethra
was reported by Obrinsky4 , who also described its
association with ‘prune belly’ syndrome, an association
that has been described subsequently by others5,6 . It has
been postulated that isolated megalourethra represents a
severe form of the ‘prune belly’ triad caused by a common
initial insult (e.g. distal urethral obstruction) and resulting
in abdominal distention and thus decreased development
of the abdominal wall musculature7 .
Benacerraf et al.8 , in 1989, were the first to report
this condition prenatally and so far only a handful

Correspondence to: Dr D. Chitayat, Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount
Sinai Hospital, 700 University Avenue, Room 3292, M5G 1Z5, Toronto, Ontario, Canada (e-mail: dchitayat@mtsinai.on.ca)
Accepted: 19 October 2010

Copyright  2011 ISUOG. Published by John Wiley & Sons, Ltd. ORIGINAL PAPER
 Table 1 Prenatal ultrasound findings, postnatal/autopsy findings and clinical manifestations in 10 cases of congenital megalourethra

Case GA Diagnostic ultrasound findings AFV Outcome Postnatal/postmortem findings Renal function Postnatal urology procedures

1 18 Dichorionic–diamniotic twins; Normal LB: CS at Megalourethra and megapenis, prune belly, bilateral Normal at Vesicostomy, bilateral
Twin A: normal anatomy; 38 weeks (twins; undescended testicles, bilateral clubfoot 3 years pyelotomy, bilateral
Twin B: megacystis, dilated first breech) orchidopexy
urethra, bilateral hydroureter
and hydronephrosis, bilateral
clubfoot
Congenital megalourethra

2 24 Megacystis, dilated urethra, Initially normal, LB: SVD at Megalourethra, bilateral grade V vesicoureteral Impaired at Penile urethrostomy,
bilateral clubfoot, hydroureters oligo at 25 35 weeks reflux, dysplastic left kidney, bilateral clubfoot, 2 years vesicostomy, orchidopexy
and hydronephrosis weeks prune belly, bilateral undescended testicles
3 18 Megacystis, dilated urethra, Initially normal, TOP at Dilated urethra surrounded by some erectile tissue — —
bilateral clubfoot, two-vessel oligo at 22 22 weeks (spongiosum), left clubfoot, mild scoliosis,
cord, hydroureters and weeks abnormal sacrum, anal atresia, absent right thumb
hydronephrosis and radius, low-set ears, retrognathia, nuchal
edema, dextrocardia
4 20 Megacystis, dilated urethra, Normal LB: SVD at Megalourethra, prune belly, bilateral undescended Normal at Bilateral orchidopexy
bilateral hydronephrosis and 39 weeks testicles, bilateral hydronephrosis with no 2 years
hydroureter vesicoureteral reflux
5 25 Megacystis, dilated urethra, Normal LB: SVD at Megalourethra, bilateral clubfoot Normal at Planned reductive

Copyright  2011 ISUOG. Published by John Wiley & Sons, Ltd.

bilateral clubfoot 38 weeks 2 months urethroplasty
6 19 Megacystis, dilated urethra, thick Normal TOP at Distal urethral stenosis, corpora spongiosa and — —
wall bladder, hydroureter and 22 weeks cavernosa present but spongiosa thin
hydronephrosis
7 24 Megacystis, dilated urethra, Normal LB: SVD at Megalourethra, massive bilateral vesicoureteral End-stage Repeat vesicostomy, right
bilateral hydroureter and 39 weeks reflux, dysplastic right kidney, bilateral renal disease nephrectomy, left tapered
hydronephrosis undescended testicles ureteral reimplant,
appendicovesicostomy,
renal transplant at 6 years
8 13 Megacystis, dilated urethra, Initially normal, LB: CS at Hypospadias, megalourethra (fusiform type): corpora — —
‘keyhole’ bladder outlet, oligo at 17 38 weeks cavernosa was deficient in distal portion, and
hydroureters, hydronephrosis, weeks (previous CS), corpus spongiosum was hypoplastic, rectovesical
echogenic kidneys, cystic penile neonatal death fistula with imperforate anus, hypertrophic
urethra bladder, dilated ureters, dysplastic and small
kidneys, hypoplastic lungs
9 13 Megacystis, dilated urethra, Initially normal, LB: SVD at Megalourethra End-stage Ureterostomy,
bilateral hydroureter, oligo at 17 39 weeks renal disease vesicostomy
hydronephrosis weeks at 3 years
10 20 Megacystis, dilated urethra, left Anhydramnios at TOP at Left paramedian cleft lip with cleft palate, single — —
multicystic dysplastic kidney, diagnosis 21 weeks umbilical artery, enlarged and distended phallus,
suspected right renal agenesis, absent right kidney and left multicystic and
hydroureters, hydronephrosis dysplastic kidney, thick and muscular bladder wall,
atresia of distal urethra with dilated urethra with
multiple crescentic membranes spiraling
throughout urethra, anal atresia, rectovesical fistula

AFV, amniotic fluid volume; CS, Cesarean section; GA, gestational weeks at diagnosis; LB, live birth; oligo, oligohydramnios; SVD, spontaneous vaginal delivery; TOP, termination of pregnancy.

Ultrasound Obstet Gynecol 2011; 37: 678–683.

679
680 Amsalem et al.

of cases have been reported5,9 – 11 . Recently, Sepulveda
et al.12 published the only series of cases diagnosed
prenatally, of which one was terminated and three were
liveborn. All of these cases were complicated by late-onset
oligohydramnios and neonatal death due to pulmonary
hypoplasia. We report our experience of 10 cases with
congenital megalourethra, the largest series reported so
far with this condition.
METHODS
Ten cases included in this study were diagnosed over a
5-year period in three fetal medicine centers (Table 1).
Research ethics board approval was obtained. The
initial ultrasound finding in all cases was megacystis,
and subsequent detailed fetal ultrasonography noted a
cystic structure between the fetal legs consistent with
megalourethra. Three pregnancies were terminated and
in the seven liveborn neonates a detailed examination
was carried out to confirm the antenatal findings and to
look for any additional abnormalities. Expert perinatal
autopsies were carried out on all fetuses when the
pregnancy was terminated (Cases 3, 6, 10) and in the
case of neonatal death (Case 8).
The bladder was aspirated and vesicoamniotic shunts
were inserted when oligohydramnios developed in Cases 2
and 9, which resulted in improved amniotic fluid volume
and live births.

Figure 1 Antenatal ultrasound images illustrating megalourethra diagnosed at 13–24 weeks’ gestation. Cases 1, 2 and 5 show the penile
portion of the urethra as a cystic structure between the fetal legs. Case 3 shows the penile as well as the pelvic portion of the urethra. Case 7
shows a distended bladder and dilated urethra and Case 8 has a classic ‘keyhole’ bladder.

Copyright  2011 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2011; 37: 678–683.
Congenital megalourethra 681

RESULTS expansion of the urethra. However, this classification is

neither pathological nor etiological and does not help in
Ten cases with congenital megalourethra were diagnosed prognostication. We suggest changing the classification
in the second trimester during routine detailed fetal of this condition to (a) primary (or ex-vacuo), caused
ultrasound. Table 1 summarizes the sonographic finding by absence or hypoplasia of the corpora spongiosa
in the 10 cases. The common genitourinary sonographic and cavernosa, associated with normal amniotic fluid
findings in all cases were megacystis and dilated/elongated volume, usually preserved renal function and better
phallus (Figure 1). All except Case 5 also had dilated
ureters and hydronephrosis. The amniotic fluid volume
was normal at the time of diagnosis in all except
Case 10 which had anhydramnios, and Cases 3, 8 and
9 subsequently developed severe oligohydramnios. The
diagnosis was confirmed in all liveborn babies by urologic
examination and retrograde urethrogram, and on autopsy
in all pregnancy terminations and the case of neonatal
death (Figures 2–4).
Case 3 had abnormalities involving other systems
(Table 1), consistent with a VACTERL association.
However, since megalourethra has not been reported
before in association with the VACTERL association,
it could be a new syndrome that has not been reported
previously. In all cases megalourethra seemed to be the
primary abnormality with megacystis, dilated ureters,
hydronephrosis/renal abnormalities and oligohydramnios
the result of a functional urethral obstruction. However,
the club foot noted in Cases 1, 2, 3 and 5 was not
secondary to oligohydramnios, but rather an associated
fetal malformation. To the best of our knowledge this
association has not been reported before. Anal atresia
was found in Cases 3 and 10 and has not been reported Figure 2 Postmortem image of Case 3 following induction of labor
before in association with megalourethra. All cases had at 22 weeks’ gestation, showing megalourethra, left clubfoot and
normal male karyotypes (46,XY). absence of right thumb and radius.
The bladder was aspirated and a vesicoamniotic
shunt inserted in Cases 2 and 9 when oligohydramnios
developed in order to bypass the functional obstruction
and potentially improve both renal and lung prognosis.
This was done at 25 weeks’ gestation in Case 2 and at
17 weeks in Case 9.
Three couples (Cases 3, 6 and 10) elected to terminate
the pregnancy and consented for autopsy (Table 1;
Figure 2). In seven cases the pregnancies continued to
term. Six children were alive at last follow-up and
one neonate (Case 8) died from pulmonary hypoplasia
(Table 1). Three children (Cases 2, 7 and 9) have renal
dysfunction, two of whom (Cases 7 and 9) have end-stage
renal disease (Table 1).

DISCUSSION

Congenital megalourethra is a rare form of functional

lower urinary tract obstruction (LUTO) caused by
primary or secondary agenesis/hypoplasia of the penile
corporal tissues. Based on the findings at urethrography,
Dorairajan2 described two variants, scaphoid and
fusiform. Babies with the scaphoid type were found
to have hypoplasia of the corpus spongiosum, with
bulging of the ventral urethra. Those with the fusiform
variant were found to have a deficiency of both Figure 3 Postnatal retrograde urethrogram of Case 7 showing
corpora spongiosa and cavernosa, with circumferential dilated and elongated penile urethra.

Copyright  2011 ISUOG. Published by John Wiley & Sons, Ltd. Ultrasound Obstet Gynecol 2011; 37: 678–683.
682
Figure 4 Postnatal images of three of the six liveborn infants (Cases 1, 7, 9) and Case 8 (neonatal death), all of which clearly show
a megapenis.
outcome, and (b) obstructive (secondary), which results in
oligohydramnios with a higher incidence of renal failure,
pulmonary hypoplasia and thus mortality. In both types
the corpora are hypoplastic (either secondary to pressure
in the obstructive type or the result of an initial absence
of the corporal tissue in the primary type). The ‘primary’
type can become obstructive if blocked by debris and
can result in oligohydramnios later in gestation. This is
supported by the literature, which reports a mortality of
13% in the ‘primary/scaphoid’ type and 66% in the
‘secondary/fusiform’ type3 . However, this information
reflects short-term outcome only and therefore should
be used with caution. Of our 10 cases, Cases 1–9 were
‘primary/ex-vacuo’, but Cases 3 and 8 started as primary
and later developed a secondary obstruction. Case 3
was terminated at 22 weeks’ gestation and Case 8 was
liveborn but died shortly after birth from pulmonary
hypoplasia.
In babies that were liveborn, the main morbidities
complicating postnatal life did not differ from those of
cases with LUTO, regardless of the etiology: pulmonary
hypoplasia due to oligohydramnios, which can result in
Copyright  2011 ISUOG. Published by John Wiley & Sons, Ltd.
Amsalem et al.
death, and chronic progressive renal failure, which can
result in end-stage renal disease. In megalourethra, further
morbidity specific to the condition includes urethral
dysfunction (voiding and possible erectile).
Techniques of surgical repair of the scaphoid mega-
lourethra were first published by Nesbit and Baum13 more
than 50 years ago, and the procedure is still currently in
use with some modification. However, urologic repair is
almost impossible when there is a lack of supportive cor-
poral tissue, although successful cosmetic and functional
repairs have been reported14 . This technical difficulty has
even led some urologists to suggest early sex reassignment
to female.
Since the first reported prenatal diagnosis of
megalourethra8 , several case reports have been published.
The only case series reported so far included four cases
and described the antenatal sonographic diagnosis of con-
genital megalourethra12 . In most of these reports – as
well as in our series – the hallmark sonographic features
are signs of LUTO, including a distended bladder with
or without hydroureter and hydronephrosis and a cystic
Ultrasound Obstet Gynecol 2011; 37: 678–683.
Congenital megalourethra
structure in the perineal region. It is important to exam-
ine the abdominal and perineal regions carefully, as a
thin-walled distended urethra can easily be mistaken for
a loop of umbilical cord. Color Doppler is very helpful
in differentiating these two entities. As in other LUTO
cases, oligohydramnios is associated with a poorer prog-
nosis. In our series, Cases 3, 8 and 9 were complicated by
oligohydramnios and Case 10 had anhydramnios. Cases 3
and 10 were terminated and Case 8 was delivered at term
but died in the early neonatal period due to pulmonary
hypoplasia. In Cases 8 and 9, pregnancy termination was
not an option (by national law).
Although most of our cases were diagnosed in the
second trimester of pregnancy, two cases were diagnosed
as early as 13 weeks, a finding that has been reported
elsewhere15 . The goal of early prenatal diagnosis of
this condition is to provide parents with an accurate
diagnosis and prognosis, thus allowing them to make an
informed decision regarding continuing or terminating the
pregnancy.
In most cases reported so far this urogenital abnor-
mality was isolated. However, several cases (6/10 in our
series) had other abnormalities. Case 8 had anal atresia,
Case 3 had anal atresia, dextrocardia and a radial ray
defect and Case 10 had anal atresia and a cleft lip and
palate. Talipes was found in four cases (1, 2, 3 and 5).
Fetal bladder shunting has been used in other types
of LUTO to overcome the functional obstruction. A
comprehensive meta-analysis by Clark et al.16 reported
a trend towards an improvement in survival and renal
function in a small group of fetuses with LUTO with
the worst prognosis in those who underwent shunting. A
multicenter randomized controlled trial is under way to
evaluate the role of antenatal bladder shunting in LUTO
generally17 . In our series, two patients had vesico-amniotic
shunts inserted (Cases 2 and 9) and, at 18 months of
age, they suffered from impaired renal function and end-
stage renal disease, respectively. However, unlike other
causes of LUTO, patients with megalourethra also suffer
from dysfunction in urination and probably erection and
ejaculation, and all live children in our series had several
urologic procedures.
In summary, congenital megalourethra is a rare form
of LUTO that can be diagnosed on antenatal ultrasound
with a distended bladder, dilated ureters, hydronephrosis
and, in most cases, a normal amount of amniotic fluid
as well as a cystic structure in the perineum (Figure 1).
The survival of patients with megalourethra depends on
the prenatal renal damage and lung hypoplasia caused by
oligohydramnios. More than half of our cases had other
abnormalities. In isolated cases, quality of life in terms
of urination and sexual function depends on the ability
Copyright  2011 ISUOG. Published by John Wiley & Sons, Ltd.
683
to correct the urologic dysfunction. Our study outlines
the short-term prognosis in these cases, which should be
discussed with expectant parents.
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