The patient was referred to the radiology department by the gynaecologist for further imaging exploration because of primary amenorrhea. On ultrasound it was impossible to evaluate the uterus and the adnexes. So the patient underwent magnetic resonance (MRI) of pituitary gland and pelvis. She was 18 years old, with the physical body development similar to an approximately 10-year-old.
There were no abnormal findings in the pituitary gland MRI. The gland presented homogenous, well-bordered, measuring 9.7 x 7.8 mm. (Fig. 1a, b). Apart from that, pelvis MRI showed complete uterus agenesia. Both ovaries were present with small follicular cysts (Fig. 2a, b, c). The imaging aspect corresponded to the first class of classification of müllerian duct abnormalities according to the American Society of Reproductive Medicine (formerly the American Fertility Society) (Fig. 3).
Congenital uterine abnormalities, called müllerian duct abnormalities (MDAs), are a broad spectrum of findings, ranging from absence to duplications of the uterus and vagina. From the sixth week of pregnancy, the bilateral müllerian ducts develop and fuse to form the uterus and the upper vagina. Vertical fusion with the sinovaginal bulb results in development of the normal vagina [1, 2]. Because of the close embryologic relationship between the müllerian duct and the urinary tract, 20% to 30% of MDAs are accompanied by abnormalities of the urinary tract . The majority of MDAs are sporadic or multifactorial in origin; however, hereditary factors, environmental exposure and drugs cause abnormalities of the genital organs [1, 3]. The incidence of congenital uterine abnormalities is difficult to determine because they often remain asymptomatic. Congenital uterine malformations are estimated to occur in 2% to 4% of women with normal reproductive function and in 5% to 25% of women with fertility or obstetric problems . Müllerian anomalies have been categorized by the American Society of Reproductive Medicine (formerly the American Fertility Society) into seven classes that are based primarily on morphologic features of the uterine corpus, however, more complex anomalies exist . Müllerian agenesis and hypoplasia account for approximately 10% of müllerian malformations and are characterized by segmental vaginal agenesis and variable degrees of uterine hypoplasia . Upper vaginal agenesis is the hallmark of Mayer-Rokitansky-Küster-Hauser syndrome, which occurs in approximately 1 in 5000 women. The vast majority of these patients have uterine agenesis, and approximately 10% present with uterine hypoplasia. Further, renal, ear, and skeletal abnormalities may be found in 10% of affected patients [1, 6]. Vaginal agenesis is best diagnosed by the absence of the normal upper vagina between the bladder and rectum on images in the transaxial plane [1, 7]. Uterine agenesis can be diagnosed on either MRI or CT, but MRI is better for assessing uterine abnormalities. Leiomyomas of the uterine remnants may develop .
Differential Diagnosis List
Complete uterus agenesia
Hypoplasia of uterus
Other classes of müllerian duct abnormalities