TECHNIQUES AND INSTRUMENTATION

Diagnosis of Mullerian anomalies in adults: evaluation

of practice
Chafika Mazouni, M.D.,a Guillaume Girard, M.D.,a Russell Deter, M.D.,b
Jean-Baptiste Haumonte, M.D.,a Bernard Blanc, M.D.,a and Florence Bretelle, M.D., Ph.D.a
a
Department of Obstetrics and Gynecology, Marseille Public Hospital System, Marseille, France; and b Department of Obstetrics
and Gynecology, Baylor College of Medicine, Houston, Texas

Objective: To evaluate the circumstances associated with the diagnosis of Mullerian anomalies in adults.
Design: Retrospective observational study.
Setting: University hospital.
Patient(s): All patients with Mullerian anomalies referred for evaluation.
Intervention(s): All patients underwent radiologic and operative diagnostic workup using ultrasonography, or ul-
trasonography and hysteroscopy, and in some cases laparoscopy.
Main Outcome Measure(s): Clinical symptoms and radiologic investigations leading to the diagnosis. Mode and
number of investigations before the diagnosis, and the time since the initial symptoms to the final diagnosis.
Result(s): One hundred ten patients were diagnosed with Mullerian anomalies: 73 septate uteri, 20 bicornuate
uteri, 10 uterine hypoplasia, 4 unicornuate uteri, and 3 with Mayer- Mayer-Rokitansy-Küster-Hauser syndrome.
The circumstances leading to the diagnosis were infertility (33.6%), repeat miscarriage (18.2%), ultrasonography
during pregnancy (12.7%), pregnancy complications during last trimester (11%), abnormal examination (8.2%),
and miscellaneous causes (16.3%). Up 50% of patients complained of gynecologic signs before the appropriate
diagnosis. Radiologic diagnosis required two complementary imaging techniques in 62% of patients and more
than two in 28%. The correct diagnosis was established in only 40% of cases before hospitalization. Most of
the anomalies were initially diagnosed at hysterosalpingography and ultrasonography. The mean time between
the first imaging examination and the diagnosis in a specialized department was 6.7 (7.1) months.
Conclusion(s): The diagnosis of Mullerian anomalies in adults is often made at the time of conception and obstet-
ric complications. There is a tendency toward the use of multiple imaging techniques and this delayed the diagno-
sis. (Fertil Steril 2008;89:219–22. 2008 by American Society for Reproductive Medicine.)
Key Words: Mullerian anomalies, uterus, diagnosis, ultrasound, imaging techniques, infertility

The diagnosis of Mullerian duct anomalies in women in their
third decade can be difficult to assess and delayed diagnosis
can occur even after menarche. Although the reported preva-
lence in general population is 0.1%–3.8%, it increases to
6.3% in infertile women (1). There are, however, still con-
cerns about the definition and classification of these anoma-
lies, which could lead to an inappropriate and late diagnosis.
Most previous studies of uterine anomalies have focused
on the diagnosis of these anomalies in childhood and adoles-
cent patients (2, 3). Effectively, congenital obstructive mal-
formations are usually easily detected during adolescence,
when young girls experience dysmenorrhea, pelvic pain, or
difficulty in inserting tampons. As they do not hamper the
ability to conceive like most uterine anomalies and are minor
Received December 6, 2006; revised January 31, 2007; accepted Febru-
ary 21, 2007.
Reprint requests: Florence Bretelle, M.D., Ph.D., Hôpital Nord, Chemin des
Bourrely, 13915 Marseille cedex 20, France (FAX: 33-4-91-96-46-96;
E-mail: florence.bretelle@ap-hm.fr).
or nonobstructive, Mullerian duct anomalies are not easy to
detect. Thus, most of these anomalies remain unrecognized
until there are radiologic explorations for infertility or a his-
tory of recurrent obstetric complications.
Moreover, the type and clinical symptoms leading to the
diagnosis will vary with the type of anomalies (1, 4).
The purpose of our study was to evaluate the circumstances
associated with the diagnosis and management of Mullerian
anomalies in adults.
MATERIALS AND METHODS
Medical charts of all patients referred for uterine anomalies
to the Department of Obstetrics and Gynecology, Conception
University Hospital, Marseille, France, between 1997 and
2002 were retrospectively reviewed. The institutional review
board, as defined by French law, was consulted and deter-
mined that its approval (Institutional Review Board [IRB])
was unnecessary as patients received standard management

0015-0282/08/$34.00 Fertility and Sterility Vol. 89, No. 1, January 2008 219
doi:10.1016/j.fertnstert.2007.02.044 Copyright ª2008 American Society for Reproductive Medicine, Published by Elsevier Inc.
 TABLE 1
Circumstances of diagnosis according to the type of malformation.
Uterine Septate
Bicornuate hypoplasia uterus Rokitansky Unicornuate Total
(n [ 20) (n [ 10) (n [ 73) (n [ 3) (n [ 4) n (%)
Repeat early abortion 2 3 15 — — 20 (18.2)
Metrorrhagia 1 3 — — 4 (3.6)
Clinical signs 5 1 3 — — 9 (8.2)
Clinical examination 5 1 — — — 6 (5.4)
Infertility 3 3 28 — 3 37 (33.6)
Primary amenorrhea — — 3 — 3 (2.7)
Ultrasonography during 3 — 11 — — 14 (12.7)
pregnancy
Pregnancy complications 1 — 11 — 12 (11)
second or third trimester
Other a 1 1 2 1 5 (4.6)
a
Included one case of hydrocolpos and one case of leucorrhea, one case of ectopic pregnancy, and one case of hema-
tometria.
Mazouni. Diagnosis of Mullerian anomalies. Fertil Steril 2008.

without any additional, unusual, or innovative diagnostic or RESULTS

follow-up procedures.
Patients with suspected Mullerian tract anomalies under-
went a complete workup before additional surgery that in-
cluded pelvic ultrasonography (US), hysterosalpingography
(HSG), tomodensitometry, and in the later years, magnetic
resonance imaging (MRI). Pelvic imaging with ultrasound
was usually the first imaging procedure used due to its repro-
ducibility and good sensitivity in exploring congenital de-
fects (5), although HSG has been the first method before
the advent of US and provides a good evaluation of the uter-
ine cavity and tubal patency (6). The MRI is also associated
with a good sensitivity and specificity (7, 8), but rarely used
in our department. For ultrasonography and MRI, trained op-
erators with more than 5 years of experience performed all
studies and reviewed US and HSG examinations performed
at outside institutions. Surgery was usually hysteroscopy
and laparoscopy, with additional operative procedures used
depending on the type of anomaly. The Mullerian duct de-
fects were specified according to The American Fertility So-
ciety (AFS) classification (9) at the time of surgery. A
bicornuate uterus was identified by the presence of two
well-formed uterine cornua with a convex fundal contour in
each and the presence of a fundal indentation greater than
10 mm. A septate uterus was identified by the presence of
septum associated with an uniformly convex external
contour or with an indentation less than 10 mm.
A research fellow interviewed patients by phone between
January and June 2003 about the circumstances of diagno-
sis, the components of the workup ordered by their physi-
cian, and the first imaging technique indicating the
diagnosis.
Patients and Signs at Diagnosis
Mean age at diagnosis was 30.2 years (9.2). The mean time
between the first imaging examination and the diagnosis was
6.7 (7.1) months.
Of the 110 patients referred for Mullerian anomalies, 4
women had a unicornuate uterus, 20 a bicornuate uterus, 73
a septate uterus, 10 uterine hypoplasia, and 3 Mayer-Roki-
tansy-Küster-Hauser syndrome.
Table 1 summarizes the circumstances of diagnosis ac-
cording to the type of malformation. One unicornuate uterus
was diagnosed during a cesarean section performed for
breech presentation. Clinical signs that led to subsequent in-
vestigations included irregular menses, dysmenorrhea, or
menorrhagia (n ¼ 7) and leukorrhea in a 76-year-old patient
with hydrocolpos. One case of uterine hypoplasia was dis-
covered due to cervical adenosis during follow-up. All pa-
tients with dyspareunia had septate vaginas. Three patients
with noncommunicating vaginas needed surgical incision
for hematometra.
Initial Radiologic Management
The first imaging study was HSG in 46% of the cases, US in
37.5%, hysteroscopy in 9%, and tomodensitometry 7.5% of
cases. A second imaging study was requested in 62.7% of
cases; the second complementary examination ordered was
HSG in 25%, hysteroscopy in 25%, ultrasound in 41%,
and MRI in 9%. A third examination was ordered in 28%
of the cases: US in 2, hysteroscopies in 23, and HSG in 5.
All of these outside examination were performed before
hospitalizations.

220 Mazouni et al. Diagnosis of Mullerian anomalies Vol. 89, No. 1, January 2008
 The initial diagnosis of uterine hypoplasia was confirmed
by HSG in 70% and by US in 30%. Diagnosis of bicornuate
uterus was confirmed by US in 85% of cases and by HSG in
the remaining 15%. Diagnosis of unicornuate uterus was con-
firmed by HSG in one case and by US examination in the
others cases. All cases of Mayer-Rokitansy-Küster-Hauser
syndrome were diagnosed by US. For women with septate
uterus (n ¼ 73), diagnosis was suspected by HSG in 21.5%
and by hysteroscopy in 19.6%. For women with septate uteri,
standard ultrasound examinations gave a false diagnosis in
80.8% of the cases.
Mode of Final Diagnosis Assessment
Based on outside studies, the correct diagnosis was estab-
lished in only 40% of cases. In contrast, US examinations car-
ried out by hospital staff gynecologists after admission led to
a correct diagnosis in all but two cases (98%; one unicornuate
uterus and one septate uterus). The MRI provided correct
diagnoses in 90% of the cases (n ¼ 15).
DISCUSSION
Despite progress in ultrasound and new pelvic imaging tech-
niques, late diagnosis of Mullerian anomalies in the third de-
cade is frequent as it accounts for 10% of the causes of
primary infertility (10). The course of patients before appro-
priate diagnosis can be long and difficult as symptoms are
varied and nonspecific. Accurate diagnosis of uterine malfor-
mations is of importance as it will affect subsequent fertility
and pregnancy (11, 12).
Difficulty in making an accurate diagnosis might be be-
cause of the low prevalence of Mullerian anomalies in the
general population (13–15), in particular for nonspecialized
physicians. Thus, in our study, more than half of the patients
had multiple explorations before final diagnosis. An average
of 6 months elapsed between the first examination and final
diagnosis.
In the present study we observed a wide variation in the
presentation and mode of diagnosis as a function of the
type of anomaly. One important finding is that difficulty to
conceive and pregnancy-related complications represented
the two main circumstances leading to the diagnosis. More-
over, the tendency for a first pregnancy at a late age may
also contribute to a diagnosis during the third decade. This
underlines the need for an appropriate diagnosis of anomalies
and identification of potential sites of obstruction. This infor-
mation will guide the subsequent surgical procedure and help
to improve the obstetric outcome. Hence, in a recent report of
20 patients with recurrent pregnancy loss, Alborzi et al. (16)
showed that because of the accuracy of HSG, unnecessary
additional laparoscopy could be avoided.
The sensitivity of ultrasound examination in Mullerian di-
agnosis has been reported to be as low as 44% (6). The US
diagnosis accuracy depends on the patient’s body type, the
operator’s experience, and the US scanner used (17). In fact
Fertility and Sterility
this low figure may also be different if it reflects the ability
to diagnose any type or one specific anomaly (18, 19). Hence,
others studies have reported better sensitivity as a function of
the type of anomalies (1, 4). Ultrasound examinations by gen-
eral radiologists in private practice were relevant for unicorn-
uate or bicornuate uterus diagnoses. It seemed also pertinent
in establishing the diagnosis of uterine aplasia. However,
such examinations were less successful for septate uterus,
as already reported (4). Multiple imaging techniques did
not improve the sensitivity for detecting uterine malforma-
tions in our study. Accurate diagnosis was made in only
40% of the cases by outside studies.
The results of previous studies are discordant in their abil-
ity to determine the best diagnostic method for the detection
of different anomalies. Although HSG is reported as the best
examination for diagnosing an arcuate uterus (1, 20), it was
less successful for a septate uterus (4). Currently, other imag-
ing techniques are useful in the diagnosis of uterine anoma-
lies (4). We found, as well as other investigators, that MRI
should not be systematically used but reserved for particu-
larly complex cases, although its sensitivity is reported to ap-
proach 100% (3, 21). Other investigators find that MRI is not
sufficient for diagnosis, especially for cases of septate uterus
(22). Transrectal ultrasound has been reported to help in de-
fining the pelvic anatomy, which can be especially useful in
young patients (23). Finally, three-dimensional ultrasound
may be promising when conducted by experienced operators
(24). However, these examinations have not been thoroughly
evaluated in low-prevalence populations, and such assess-
ment is a necessary precondition for their use in screening
of low-risk populations (15, 24, 25).
The training of general practitioners and sonographers
should be improved to increase the sensitivity of ultrasound
examinations in general practice because US diagnosis can
avoid the need for laparoscopic investigation (11).
In conclusion, it appears from our study that despite devel-
opment of a standard classification of Mullerian anomalies
and progress in radiologic investigations, the diagnosis of
these anomalies can be uncertain or delayed by inappropriate
initial management.
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