The Role of Imaging in Mayer-Rokitansky-K�ster-Hauser Syndrome: A Report of Two Cases and Literature Review

Case Series

Austin J Radiol. 2017; 4(2): 1067.

The Role of Imaging in Mayer-Rokitansky-Küster-Hauser Syndrome: A Report of Two Cases and Literature Review

Farate A¹*, Ahmadu MS¹, Tela UM², Shettima ZB¹ and Bukar M³

¹Department of Radiology, University of Maiduguri Teaching Hospital, Nigeria

²Division of Urology, Department of Surgery, University of Maiduguri Teaching Hospital, Nigeria

³Department of Obstetrics and Gynaecology, University of Maiduguri Teaching Hospital, Nigeria

*Corresponding author: Farate A, Department of Radiology, University of Maiduguri Teaching Hospital, P. M. B. 1414 Maiduguri, Borno State, Nigeria

Received: April 05, 2017; Accepted: May 15, 2017; Published: May 26, 2017


Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare condition that results from the disturbance of embryonic paramesonephric (Mullerian) duct development giving rise to varying degrees of malformation of reproductive organs and in some cases structures outside of reproductive system such as renal and skeletal abnormalities. The authors describe two female patients with normal (46, XX) karyotype, normal external genitalia and well-developed secondary sexual characteristics who presented with primary amenorrhoea.

Keywords: Mullerian defects; Mayer-Rokitansky-Kuster-Hauser syndrome; Primary amenorrhoea; Imaging


Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome results from developmental failure of part or whole of Müllerian ducts that is characterised by partial or complete absence of the uterus with absent or shallow vaginal pouch. Patients with MRKH syndrome have normal karyotype (46, XX), external genitalia and secondary sexual characteristics (pubic hair and breast development) [1-3].

The MRKH syndrome is broadly classified into two types. Type I (typical form) is characterised by abnormalities that are confined to the reproductive system and type II or MURCS (Müllerian duct aplasia, renal dysplasia, and cervicothoracic somite anomalies) association (atypical form), if there is an additional abnormality, most commonly renal (unilateral agenesis, ectopic kidneys, horseshoe kidneys) and skeletal (Klippel-Feil anomaly, fused vertebra—particularly cervical vertebra and scoliosis) [1-3].

We report on the two distinct forms of MRKH females who presented with primary amenorrhoea and normal secondary sexual characteristics. The first patient, an 18-year-old, had an isolated abnormality of the reproductive system (type I MRKH syndrome) and the second patient, a 25-year-old, in addition to reproductive system abnormality had associated horseshoe kidney, cervical vertebral fusion (Klippel-Feil anomaly) and lumbar spine scoliosis (type II MRKH syndrome or MURCS association) on further imaging evaluation. This report highlights the role and benefit of imaging in the differential diagnosis and classification of patients presenting with this disorder.

Case Presentation

Case 1

An 18-year-old girl referred for ultrasound examination on account of primary amenorrhoea. She had no other medical problem. Her 14-year-old immediate younger sister had attained menarche and experienced normal and regular menstrual cycle. No family history of similar problem. Patient’s mother did not use any medications that are known to be teratogenic during pregnancy. The patient had begun pubertal development at 12-years-old and thelarche at 10-years-old.

At physical examination, the height measured 160 cm and weight measured 45kg. The secondary sexual characteristics such as breast development (Tanner stage-5), axillary and pubic hair was compatible with her chronological age. External genitalia, urethra, and vaginal orifice were normal. Digital vaginal and speculum examinations were deferred because of virginity.

At transabdominal ultrasound, both ovaries were seen with no identifiable uterine tissue (Figure 1a & b). Magnetic Resonance Imaging (MRI) revealed normal ovaries containing multiple subcentimeter follicles (Figure 1c & d). The ovaries measured 20 mm x 24 mm on the right and 23 mm x 27 mm on the left. The uterus was absent (Figure 2). Both kidneys were in their normal location and Intravenous Pyelogram (IVP) did not show any pelvicalyceal, ureteral or urinary bladder abnormality (Figure 3). Radiographic examination of the spine was normal. Total blood count and relevant serum biochemistry values were within normal limits.