Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
Number:27ESURABS0088
Type:Scientific Electronic Presentation
Authors: Ricardo Natel, Bruno Pasquini, Beatriz Ahmad, Carolina Zaghini, Antonio Rahal, Victor Jabour, Miguel Neto, Marcos De Queiroz
Keywords:Amenorrhea; Mullerian Ducts; Uterus; Vagina; Infertility
SECTIONS
Objectives

The aim of this project is to describe MRKH syndrome and to elucidate its imaging guided diagnosis through a case report.


Material and methods

For the case report were used datas collected by the medical team, information from the medical record and image exams requested.

A 14-year-old girl with a clinical history of primary amenorrhea. An Magnetic Resonance Imaging (MRI) of the pelvis was performed where tissue was found obliterating the space between the rectum and the bladder, possibly representing the upper part of the vaginal canal. Distal vaginal and uterine portions were not identified. Two small elongated structures with contrast enhancement adjacent to the ovaries stand out, apparently in contact with what appears to represent the round ligaments. Its posterior portions approach the midline. Such structures present a homogeneous signal on T2, without layer definition (myometrium and endometrium). Measures about 3.4 x 0.7 cm on the right and 3.3 x 1.0 cm on the left. The appearance is not entirely specific,...

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PELVIS MAGNETIC RESONANCE. Tissue obliterating the space between the rectum and the bladder, which may represent the upper part of the vaginal canal. Unidentified distal vaginal portions. Uterus not identified in its usual topography. Two small elongated structures stand out with contrast enhancement adjacent to the ovaries, apparently in contact with what appears to represent the round ligaments. Its posterior portions approach the midline. Such structures present a homogeneous signal on T2, without layer definition (myometrium and endometrium). Measures about 3.4 x 0.7 cm on the right and 3.3 x 1.0 cm on the left. The appearance is not entirely specific, but suggests the possibility of rudimentary uterine horns (hypoplastic didelphic uterus within the spectrum of Rokitansky syndrome?).
 

Results

The MRKH syndrome affects about 1 in 4500 newborn females. It is characterized by a congenital hypoplasia of the uterus and the upper two-thirds of the vagina. This happens because of the interruption of the embryonic development of the paramesonephric ducts (Müllerian), with no complete development of the uterus (rudimentary uterus). The development of secondary characters is normal as the ovaries are functioning. The patient's symptom is primary amenorrhea. The rudimentary uterus is characterized by being bulky and presenting disorganized morphology (no isthmus or cervix). The first imaging exam performed is pelvic ultrasound (US) which may appear to have a normal uterus. Vaginal agenesis is diagnosed by transrectal or transperineal US. Magnetic Resonance Imaging (MRI) has 100% sensitivity and specificity, showing high agreement with laparoscopy in the assessment of pelvic...

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Conclusions

The MRKH syndrome presents müllerian malformation, causing hypoplasia of the uterus and the upper two-thirds of the vagina, while the ovaries are normal and functional. MRI is the imaging method of choice for this syndrome. Finally, it is very important to be aware of symptoms such as primary amenorrhea, and always think about possible müllerian malformation.