AJR 2001; 177:1041-1044
© American Roentgen Ray Society
Diagnosing Neonatal Female Genital Anomalies Using Saline-Enhanced Sonography
Ursula Kiechl-Kohlendorfer1,
Theresa Elisabeth Geley,
Karin Maria Unsinn and
Ingmar Gaßner
1
All authors: Department of Pediatrics, University Hospital Innsbruck,
Anichstr. 35, 6020 Innsbruck, Austria.
Received March 19, 2001;
accepted after revision May 8, 2001.
Address correspondence to I. Gaßner.
Abstract
OBJECTIVE. The purpose of this article is to show the usefulness of
sonography in diagnosing genital anomalies early in female neonates who have
unilateral renal malformations. Our patients were three female neonates with
renal anomalies that had been detected in utero. We performed sonography of
the inner genitalia of each girl after filling the vagina with saline
solution. In two patients with multicystic dysplastic kidney disorder, the
examination revealed uterus didelphys with obstruction of one of the vaginas.
Sonographic examination of the third patient showed Gartner's duct cyst with
renal agenesis.
CONCLUSION. The neonatal period provides a unique opportunity to use
sonography to detect uterine anomalies because maternal and placental hormone
stimulation increases the size of the uterus. Simultaneous intravaginal saline
instillation during imaging further improves the radiologist's ability to
diagnose genital malformations precisely. This procedure is a simple,
sensitive, and inexpensive examination method that is useful in imaging female
neonates with renal dysplasia or agenesis detected in utero or in the neonatal
period. Its particular value is to further characterize a cystic mass
posterior to the bladder that is seen at transabdominal sonography.
Introduction
The first detailed description of concomitant congenital malformations of
the reproductive and urinary tracts in females was provided by Woolf and Allen
[1]. Because of the high
coincidence of genital and renal anomalies, careful investigation of the
genital system in patients with renal anomalies (or vice versa) is warranted
[2]. Unilateral multicystic
dysplastic kidney (MCDK) disorder, renal agenesis, or cystic dysplastic kidney
disorder may be associated with genital anomalies, most commonly fusion
defects of the müllerian ducts (such as uterus
septus, uterus duplex, uterus didelphys, and unicornuate uterus) and
remainders of the wolffian ducts (Gartner's duct cyst). A number of females
with renal anomalies and concomitant genital malformations have been described
in the literature
[1,2,3,4,5,6],
but in only a few reports was the diagnosis established in the neonatal period
[7,
8].
We describe three female neonates with concomitant wolffian and
müllerian duct developmental anomalies. The
conditions of all three patients were revealed in the neonatal period through
the use of genital sonography.
Subjects and Methods
Between February 1994 and December 1999, three female neonates who were 1-3
days old underwent renal and pelvic sonography at the radiologic unit of the
Department of Pediatrics, Innsbruck University Hospital. In all three
patients, renal anomalies had been detected in utero. Pelvic sonography was
performed with special attention to potential concomitant genital anomalies.
To improve visualization of the vagina and adjacent structures, normal 0.9%
saline solution was instilled in the vagina through an 8-French feeding tube
that had been inserted into the vaginal orifice under sterile conditions and
gently advanced. The vagina had then been filled with the saline solution.
Continous infusion of the fluid compensated for the leakage through the
vaginal orifice. The patients then were examined using Ultramark 8 HDI or HDI
5000 scanners (Advanced Technology Laboratories, Bothell, WA) equipped with a
7- to 4-MHz curved array or a 5- to 12-MHz linear transducer.
Results
Abdominal sonography in two of the neonatal girls showed that multiple
noncommunicating cysts were located at the L4-L5 level (consistent with MCDK
disorder) and that the contralateral kidney was normal in position, size, and
echogenicity. Transabdominal sonography revealed a duplicated uterus and a
paramedian cystic structure at the level of the vagina (Figs.
1A and
1B). After filling the vagina
with the saline solution and then obtaining sonograms, we identified one
patent vagina and the previously mentioned cyst as an obstructed vagina
ipsilateral to the MCDK (Fig.
1C). In one of the patients, a moderately dilated ureter
originated from the MCDK and extended to the level of the vagina. Genitography
performed under fluoroscopic guidance showed only the inner contour of the
contrast-material-filled vagina; neither uterine nor vaginal anomalies were
discernible in either patient. No reflux was evident on voiding
cystourethrography. On the basis of the sonographic workup, the diagnosis of a
uterus didelphys and obstruction of one vagina ipsilateral to a MCDK was
established in both patients (Fig.
1D).
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Fig. 1A. —1-day-old female neonate with right multicystic dysplastic
kidney and uterus didelphys with ipsilateral vaginal obstruction. Transverse
sonogram of pelvis shows right (R) and left (L) uteri behind bladder.
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Fig. 1B. —1-day-old female neonate with right multicystic dysplastic
kidney and uterus didelphys with ipsilateral vaginal obstruction. Transverse
sonogram at lower level than A shows cyst (C) representing obstructed
vagina.
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Fig. 1C. —1-day-old female neonate with right multicystic dysplastic
kidney and uterus didelphys with ipsilateral vaginal obstruction. Longitudinal
sonogram obtained after instilling saline solution in vagina shows filled
patent left vagina (V) and right uterus (U), as well as cervical os
(arrowhead) protruding into obstructed right vagina
(arrows).
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Fig. 1D. —1-day-old female neonate with right multicystic dysplastic
kidney and uterus didelphys with ipsilateral vaginal obstruction. Diagram
shows noncommunicating cysts of right multicystic dysplastic kidney (white
arrowhead) located at lower position than it would normally be found.
Contralateral kidney is normal in shape and size and located at normal
abdominal level. Duplicate uterus is associated with ipsilateral obstructed
vagina (black arrowhead).
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In the third patient, the left kidney could not be detected, and the right
kidney was normal. Transabdominal sonography revealed a normal uterus and a
cystic structure at the level of the vagina
(Fig. 2A). At the instillation
of saline solution into the vagina, the cyst was revealed to be in continuity
with a tubular structure that extended superiorly to the fundus of the uterus
(Fig. 2B). The cyst impinged on
the left wall of the vagina (Fig.
2C). Using genitography with contrast media, we were able to
visualize the impression of the cyst on the vaginal wall; there was no
communication between vagina and cyst. A voiding cystourethrogram did not show
ureteral reflux. This patient had ipsilateral renal agenesis, and she was
thought to have a single ectopic ureter that communicated with a Gartner's
duct cyst (Fig. 2D).
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Fig. 2A. —3-day-old female neonate with Gartner's duct cyst and
ipsilateral renal agenesis. Transverse sonogram of pelvis shows paramedian
left-sided fluid-filled cyst (C) at level of vagina and cervix.
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Fig. 2C. —3-day-old female neonate with Gartner's duct cyst and
ipsilateral renal agenesis. Longitudinal sonogram shows cyst (C) in continuity
with dilated and tortuous ureter (arrows) extending cephalad from
it.
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Fig. 2D. —3-day-old female neonate with Gartner's duct cyst and
ipsilateral renal agenesis. Diagram shows Gartner's duct cyst (white
arrowhead) in close relation to left vaginal wall and cervix. A single
rudimentary left ureter (black arrowhead) communicates with cyst.
Both uterus and right kidney are normal in shape, size, and location. No left
kidney is found.
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No surgical intervention was necessary in any of the three patients, and
all have been followed up for 1-6 years. No history of abdominal pain or
voiding problems has been reported. Findings of physical examinations and
routine blood analyses, including parameters of renal function, were
unremarkable, as were the results of the standard urine analyses and cultures.
In both patients with uterus didelphys, sonographic follow-ups after the
neonatal period failed to reveal the duplicated uterus accurately. Cystic
structures in the kidney became smaller in one patient.
Discussion
The close interrelation of the urinary and reproductive system during
embryologic development may explain the coexistence of urinary and
reproductive tract anomalies
[1,
3,4,5].
The internal genital organs and the lower urinary system originate from two
paired urogenital structures that develop in both sexes: the mesonephric
(wolffian) ducts and the paramesonephric
(müllerian) ducts. In females, the upper four
fifths of the vagina, the uterus, and the fallopian tubes develop from the
müllerian ducts. The distal segments of the
müllerian ducts move toward the midline and fuse
into a single tube, the uterovaginal canal. The ureteral bud develops from the
wolffian duct and evolves into the ureter, renal pelvis, and intrarenal
collecting system and acts as an inducer of differentiation of the renal
blastema in the adult kidney.
A ureteral bud that originates from a mesonephric duct that is in a more
cranial position than is normally found causes the development of ureteral
ectopia and renal dysplasia. In females, an ectopic ureter may terminate
proximal to, at, or distal to the urethral sphincter in the urethra,
vestibule, vagina, perineum, uterus, fallopian tube, Gartner's duct cyst, or
rectum. MCDK may be associated with lateral ectopy of the ureter, resulting in
misalignment of the ureteral bud as it grows cephalad to the metanephric
blastema or in obstruction anywhere in the urinary tract during early
gestation [9]. An example of
the latter mechanism is the dilated ureter in one of our patients, which could
be traced from the MCDK to the obstructed ipsilateral vagina. MCDK detected in
utero or in the neonatal period may involute; the cysts may disappear later
and mimic renal agenesis
[10].
In two of our patients, the MCDK was associated with a uterus didelphys
with obstruction of the ipsilateral vagina (Fig.
1A,1B,1C,1D).
This genital malformation is due to incomplete fusion of the
müllerian ducts and unilateral occlusion of the
duplicated müllerian system
[5]. In the third patient,
unilateral renal agenesis was associated with a Gartner's duct cyst (Fig.
2A,2B,2C,2D).
This cyst, a remnant of the wolffian duct, may occur anywhere in the ovary,
broad ligament, uterine walls, or vagina
[6]. A Gartner's duct cyst can
communicate with the uterus or vagina; in our patient, no communication could
be visualized.
Because of the frequent association of concomitant wolffian and
müllerian duct developmental anomalies
[1,2,3,4,5,6,7,8],
female neonates with renal malformations need to be screened for genital
anomalies. Under the influence of maternal and placental hormones, the size of
the uterus increases late in gestation and displays a definable endometrial
stripe. Thus, the uterus can readily be examined in the neonatal period using
transabdominal sonography to provide an early and accurate diagnosis. Fluid
instillation into the vagina further improves diagnostic value of sonography
by providing considerably better visualization of the vagina and adjacent
structures and allowing cystic structures to be more precisely classified
(Figs. 1C,
2B, and
2C). This method is
comparatively simple and noninvasive
[11]. After the neonatal
period, the uterus regresses in size and has a tubular shape; the endometrium
is not apparent, making it almost impossible to evaluate uterine
anomalies.
Alternative or additional diagnostic tools currently available for
determining genital malformations in infants are genitography with contrast
media and MR imaging. Genitography has the disadvantage of exposing the
patient to ionizing radiation and iodinated contrast material. Moreover,
visualization is limited to the inner contour of the genital tract.
Frequently, the uterus is not completely filled with contrast material
[7], and so the proximal
impression of the cervix or cervices or the lateral impression caused by an
obstructed hemivagina may evade diagnosis. In our patients, traditional
genitography was clearly inferior to sonography in revealing and allowing
classification of genital anomalies. The disadvantages of MR imaging are that
it is expensive and generally requires anesthesia in pediatric patients. As in
sonography, the diagnostic accuracy of MR imaging may be improved by
instilling a 0.9 normal saline solution in the vagina.
In conclusion, early and accurate diagnosis of genital malformations
hastens the provision of appropriate treatment or eliminates unnecessary
surgical exploration at puberty when patients with unilateral vaginal
obstruction become symptomatic with acute abdominal pain and dysmenorrhea
[1,
2,
7,
12]. Pelvic sonography is a
noninvasive and cost-effective imaging technique suitable for use in
evaluating genital anomalies in neonatal patients with renal malformations.
Instillation of a saline solution further improves diagnostic accuracy.
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Abstract
Introduction
