Ultrasound Obstet Gynecol 2011; 37: 678683

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. OTANO,

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
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, 1324)
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

renal dysfunction and sexual dysfunction is expected.

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

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

LB: SVD at
35 weeks

Initially normal,
oligo at 25
weeks
Initially normal,
oligo at 22
weeks

Initially normal,
oligo at 17
weeks
Anhydramnios at
diagnosis

Initially normal,
oligo at 17
weeks

Normal

TOP at
21 weeks

LB: SVD at
39 weeks

LB: CS at
38 weeks
(previous CS),
neonatal death

LB: SVD at
39 weeks

LB: SVD at
38 weeks
TOP at
22 weeks

Normal
Normal

LB: SVD at
39 weeks

Normal

TOP at
22 weeks

LB: CS at
38 weeks (twins;
first breech)

Outcome

Normal

AFV
Normal at
3 years

Renal function

End-stage
renal disease

Hypospadias, megalourethra (fusiform type): corpora

cavernosa was deficient in distal portion, and

corpus spongiosum was hypoplastic, rectovesical
fistula with imperforate anus, hypertrophic
bladder, dilated ureters, dysplastic and small
kidneys, hypoplastic lungs
Megalourethra
End-stage
renal disease
at 3 years
Left paramedian cleft lip with cleft palate, single

umbilical artery, enlarged and distended phallus,

absent right kidney and left multicystic and
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

Megalourethra, massive bilateral vesicoureteral

reflux, dysplastic right kidney, bilateral
undescended testicles

Megalourethra, bilateral grade V vesicoureteral

Impaired at
reflux, dysplastic left kidney, bilateral clubfoot,
2 years
prune belly, bilateral undescended testicles
Dilated urethra surrounded by some erectile tissue

(spongiosum), left clubfoot, mild scoliosis,

abnormal sacrum, anal atresia, absent right thumb
and radius, low-set ears, retrognathia, nuchal
edema, dextrocardia
Megalourethra, prune belly, bilateral undescended
Normal at
testicles, bilateral hydronephrosis with no
2 years
vesicoureteral reflux
Megalourethra, bilateral clubfoot
Normal at
2 months
Distal urethral stenosis, corpora spongiosa and

cavernosa present but spongiosa thin

Megalourethra and megapenis, prune belly, bilateral

undescended testicles, bilateral clubfoot

Postnatal/postmortem findings

Ureterostomy,
vesicostomy

Repeat vesicostomy, right

nephrectomy, left tapered
ureteral reimplant,
appendicovesicostomy,
renal transplant at 6 years

Planned reductive
urethroplasty

Bilateral orchidopexy

Penile urethrostomy,
vesicostomy, orchidopexy

Vesicostomy, bilateral
pyelotomy, bilateral
orchidopexy

Postnatal urology procedures

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.

9 13 Megacystis, dilated urethra,

bilateral hydroureter,
hydronephrosis
10 20 Megacystis, dilated urethra, left
multicystic dysplastic kidney,
suspected right renal agenesis,
hydroureters, hydronephrosis

8 13 Megacystis, dilated urethra,

keyhole bladder outlet,
hydroureters, hydronephrosis,
echogenic kidneys, cystic penile
urethra

4 20 Megacystis, dilated urethra,

bilateral hydronephrosis and
hydroureter
5 25 Megacystis, dilated urethra,
bilateral clubfoot
6 19 Megacystis, dilated urethra, thick
wall bladder, hydroureter and
hydronephrosis
7 24 Megacystis, dilated urethra,
bilateral hydroureter and
hydronephrosis

1 18 Dichorionicdiamniotic twins;
Twin A: normal anatomy;
Twin B: megacystis, dilated
urethra, bilateral hydroureter
and hydronephrosis, bilateral
clubfoot
2 24 Megacystis, dilated urethra,
bilateral clubfoot, hydroureters
and hydronephrosis
3 18 Megacystis, dilated urethra,
bilateral clubfoot, two-vessel
cord, hydroureters and
hydronephrosis

Case GA Diagnostic ultrasound findings

Table 1 Prenatal ultrasound findings, postnatal/autopsy findings and clinical manifestations in 10 cases of congenital megalourethra

Congenital megalourethra
679

Ultrasound Obstet Gynecol 2011; 37: 678683.

680

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

Amsalem et al.
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 1324 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: 678683.

Congenital megalourethra

RESULTS
Ten cases with congenital megalourethra were diagnosed
in the second trimester during routine detailed fetal
ultrasound. Table 1 summarizes the sonographic finding
in the 10 cases. The common genitourinary sonographic
findings in all cases were megacystis and dilated/elongated
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 24).
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
before in association with megalourethra. All cases had
normal male karyotypes (46,XY).
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).

681

expansion of the urethra. However, this classification is

neither pathological nor etiological and does not help in
prognostication. We suggest changing the classification
of this condition to (a) primary (or ex-vacuo), caused
by absence or hypoplasia of the corpora spongiosa
and cavernosa, associated with normal amniotic fluid
volume, usually preserved renal function and better

Figure 2 Postmortem image of Case 3 following induction of labor

at 22 weeks gestation, showing megalourethra, left clubfoot and
absence of right thumb and radius.

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
corpora spongiosa and cavernosa, with circumferential

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

Figure 3 Postnatal retrograde urethrogram of Case 7 showing

dilated and elongated penile urethra.

Ultrasound Obstet Gynecol 2011; 37: 678683.

682

Amsalem et al.

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 19 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.

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 megalourethra 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 corporal 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 congenital 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: 678683.

Congenital megalourethra
structure in the perineal region. It is important to examine 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 prognosis. 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 abnormality 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 endstage 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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