Uterine malformations are mostly the result of an abnormality in the development of the ducts of Müller during the process of genital cavity formation. They can occur at any of the three stages of organogenesis giving three types of anomalies. They are benign anomalies with a prevalence between 4% and 7% [1]. These malformations have an important impact on reproduction and are the cause of certain obstetrical complications and infertility. Imaging examinations remain essential for the accurate diagnosis of these malformations. 2D/3D ultrasound (US) remains the first-line examination, but MRI remains the gold standard for accurate diagnosis, with a view to optimal management. Several classifications exist but the most used are those of the American Fertility Society (AFS) and the European Society of Human Reproduction and Embryology (ESHRE) and the European Society for Gynaecological Endoscopy (ESGE): CORNUTA (congenital uterine anomalies) [1].

The definitive treatment is surgical in most cases. Psychological support is essential in the management of some of these malformations.

Case 1

A 20-year-old female patient with a history of primary amenorrhea and development of secondary sexual characters in whom a pelvic computed tomography (CT) scan revealed a pelvic kidney and suspected uterine agenesis. Pelvic MRI revealed: total uterine agenesis, inferior vaginal remnant, normal ovaries, left pelvic kidney (Figure 1 and Figure 2). The diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome was retained, classified as AFS 1/U5C4V4.

Case 2

A 22-year-old female patient with a history of primary amenorrhea and development of secondary sexual characters. A US scan was performed which suspected a uterine malformation. A pelvic MRI was ordered. Pelvic MRI revealed (Figure 3 and Figure 4):

The presence of two distinct rudimentary uterine horns with functional endometrium: the right horn sits at the level of the right iliac fossa communicating with the homolateral ovary, the left horn sits next to the iliac vessels communicating with the left ovary. It is associated with uterine cervix and vaginal agenesis. Ovaries were normal.

The diagnosis of MRKH syndrome was retained, classified as AFS 1/U5C4V4.

The frequency of uterine malformations has a significant impact on reproduction, ranging from 0.5% to 47%. Mayer-Rokitansky-Küster-Hauser syndrome is rare with a frequency of 1/5000 women. In the general population, it varies between 0.5% and 4% [2]. The frequency rate of malformations in the fertile population is 3.8%, whereas it is 6.3% in the infertile population. These malformations are secondary to an anomaly in the development of the Müllerian ducts. They are therefore divided into three types according to organogenesis.

Depending on the stage of organogenesis [3]:

• Müllerian aplasia: MRKH syndrome
• Disorders of the fusion of the Müllerian ducts: bicornuate uterus
• Disorders of resorption of the intermüllerian septum: septate uteri

These anomalies are most often associated with anomalies of the urinary tree (renal agenesis, ectopic kidney) in 10–20% of cases [2]. In the infertile patient, population malformations are described with a prevalence of 7% with uterus arcuatus, 34% with septated uterus, 39% with bicornuate uterus, 11% with uterus didelphis, 5% with uterus unicornis, and 4% with aplasia of the uterus [4].

These different malformations have led to classifications in order to harmonize understanding. The best known are those of the American Society of Reproductive Medicine (ASRM) [5] and The European Society of Human Reproduction and Embryology (ESHRE), and the European Society of Gynaecological Endoscopy (ESGE) [1] (Table 1 and Table 2).

The circumstances of discovery vary: primary amenorrhea, dyspareunia, infertility, repeated miscarriages, systematic ultrasound findings (of an obstetric ultrasound), imaging, complications (uterine ruptures, placental anomalies) [6].

The gynecological examination has an important place in the diagnosis. It allows the detection of vaginal and cervical abnormalities in cases of amenorrhea. It must be meticulous in looking for malformations of the external genitalia, the vagina, and the cervix. It is not sufficient, however, and must be supplemented by imaging examine [7].

The initial diagnostic method is the two-dimensional ultrasound (2D US), but also used are three-dimensional ultrasound (3D US), MRI, hysterosalpingo-contrast-sonography, X-ray hysterosalpingography, video hysteroscopy, and video laparoscopy [7].

For diagnostic purposes, 3D US remains the examination of the first choice. It has good reproducibility, a high level of agreement among different observers provides additional and more reliable images, and allows for the evaluation of the cervix and the vagina.

The second reference examination is pelvic MRI which is the gold standard in the detection of uterovaginal malformations. Magnetic resonance imaging offers objective and reliable tridimensional information about all the genital and peritoneal anatomy, except for the tubes; it can be used in all cases, including obstructive malformations. Magnetic resonance imaging can differentiate between a hypoplastic, non-functional uterine horn, and a non-communicating horn with functional potential, and it provides excellent noninvasive evaluation of complex anomalies such as MRKH syndrome or obstructed hemivagina ipsilateral renal agenesis syndrome. Magnetic resonance imaging is also ideal for accurate visualization of concurrent ovarian, renal, and lower urinary tract, and musculoskeletal abnormalities included in the imaged region.

The respective sensitivity and specificity are: Sensitivity: MRI 28.6–100%/3D US: 98–100%; Specificity: MRI 66–100%/3D US: 100% [8].

Mayer-Rokitansky-Küster-Hauser is a uterine aplasia and accounts for 3.4–10% of Müllerian anomalies. It is the most common form of Müllerian hypoplasia. The ovaries are normal and functional. In about 28% of these women, there is an ovarian malposition. Most girls have two rudimentary horns.

Mayer-Rokitansky-Küster-Hauser is a uterine aplasia and accounts for 3.4–10% of Müllerian anomalies. It is the most common form of Müllerian hypoplasia. The ovaries are normal and functional. In about 28% of these women, there is an ovarian malposition. Most girls have two rudimentary horns.

These are:

• symmetrical forms:
  • Major aplasia: absence of uterine horns
  • Limited aplasia: presence of canaliculated uterine horns and functional endometrium
• asymmetrical “hemi-rokitansky” forms
  • 1 side = typical or major MRKH
  • 1 side with limited or total/subtotal aplasia

They can be seen on MRI as bilateral small soft-tissue masses of intermediate to slightly hyperintense signal similar to the myometrium, located adjacent to the ovaries along the pelvic sidewalls and sometimes connected by a triangular band of intermediate-signal tissue.

Treatment varies according to the stage of diagnosis. It is essentially two-fold [4],[7]:

• Non-surgical methods: Franck: consists of posterior dilatation and requires regular sexual activity and is therefore limited to women with a sexual partner. It requires the cooperation of the patient.
• Surgical methods: consists of digestive transplants (hydrorrhea), cleavage by the lower route: vesicorectal cleavage, skin graft, and vaginal dilator, risk of urethral injury (McIndoe) or by the abdominal route (Vecchietti): transabdominal traction of an olive in the cup.

Surgery and psychological support play an essential role in the management.

Uterine malformations are a heterogeneous group of disorders secondary to abnormal development of the Müllerian ducts. They are classified into three groups. Imaging plays an essential role in the diagnosis by 3D US, followed by MRI, which remains the gold standard for diagnosis. They are most often associated with urinary and vaginal malformations. Mayer-Rokitansky-Küster-Hauser syndrome is the rarest. In order of frequency, septate uteri are more common, followed by bicornuate uteri. Management varies according to the type of malformation and surgery plays an essential role; psychological support is sometimes necessary for follow-up.