Teaching Case

A 16-year-old female patient was referred to the radiology department after an endocrinological evaluation in order to investigate primary amenorrhea. The secondary sexual characteristics were normal, as well as the hormonal levels. There was no history of systemic pathology or chronic medication use. Ultrasound examination was inconclusive due to technical difficulties.

Pelvic MRI showed the absence of normal morphology of the uterus, cervix, and upper 2/3 of the vagina between the bladder and rectum.

There was a left ectopic kidney located in the pelvis, in contact with the posterior aspect of the vesical dome, with an anteroinferior oriented hilum; there were no renal structural abnormalities; the renal artery originated from the common iliac artery and the renal vein was tributary to the common iliac vein.

Normal morphology right ovary was found in the right iliac fossa, and the left ovary, in the subcutaneous cellular tissue near the external orifice of the inguinal canal.

There were no soft-tissue structures suggestive of Mullerian remnants.

Müllerian duct anomalies are congenital abnormalities that occur when the Müllerian ducts fail to develop correctly; they are classified into seven types according to the American Fertility Society. Type I, also known as Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by uterine and upper 2/3 vaginal agenesis with normal ovaries and fallopian tubes. MRKH is subdivided into 2 types: type A (isolated uterovaginal aplasia); type B (atypical form) includes associated renal (unilateral agenesis or ectopia of one or both kidneys, horseshoe kidney), skeletal abnormalities (fused vertebrae, scoliosis), or unilateral auditory deficits. [1,2]

It has an incidence of 1 in 5000 female births. [3]

The aetiology of MRKH syndrome is unclear, however, genetic causes are presumed. [3]

MRKH usually presents in the form of primary amenorrhea in an otherwise normally developed adolescent female, with normal hormonal levels and normal karyotype (46, XX). [4]

Once the diagnosis of MRKH is clinically suspected,  imaging investigations such as ultrasound and MRI have an essential role in confirming the diagnosis and revealing other associated malformations.

Ultrasound is the primary imaging evaluation method due to its high accessibility and benefit-cost ratio. It depicts the absence of the uterus and the presence of ovaries and is usually enough for a preliminary diagnosis. [1,4]

However, in some cases, there may be presence of Mullerian remnants (the rudimentary uterine buds) or ectopic ovaries, which are not always identifiable on ultrasound. Therefore, for an extensive anatomical description and also for surgical planning, MRI is indispensable. CT is not usually chosen due to the radiation exposure and its inferior resolution. [3,4,5]

MRI is the best imaging technique for refining the diagnosis and for surgical planning, being able to replace the exploratory laparoscopy. MRI offers a detailed description of the pelvic anatomy and morphology; assesses the degree of uterine development, including the uterine buds, typically located anteroinferior to the ovary and interconnected by a fibrous band; their presence is important, as they may be a source of endometriosis and need to be removed. MRI also describes the upper vaginal aplasia, visualizes the ovaries (sometimes ectopic) and other renal/skeletal anomalies. [1,4,6]

Among treatment options, there are listed surgical and non-surgical procedures, the most common being vaginal dilatation, respective creation of a neovagina. Apart from the surgical view, the patient must receive adequate and thoughtful psychological counselling, as the anxiety and distress surrounding their diagnosis are enormous. [4]

Written informed patient consent for publication has been obtained.