Mayer-Rokitansky-Küster-Hauser syndrome type II: A rare case report

Abstract

MRKH syndrome, or Mayer-Rokitansky-Küster-Hauser syndrome, a rare congenital disease, manifests as a complete or partial aplasia of the uterus and the vagina's upper two-thirds with normal external genitalia and functioning ovaries. Mayer-Rokitansky-Küster-Hauser syndrome can occur in isolation (type I) or in conjunction with other congenital extragenital deformities affecting the kidneys, skeleton, heart, eyes, or auditory system (type II). The diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome typically relies on imaging studies, with transabdominal ultrasonography serving as the primary modality. However, magnetic resonance imaging is considered the gold standard for detailed assessment of internal genital anatomy. We present the case of an 18-year-old woman without any notable medical history who exhibited primary amenorrhea. Mayer-Rokitansky-Küster-Hauser syndrome type II was suspected on pelvic ultrasound and subsequently confirmed via magnetic resonance imaging. The patient was provided with psychological assistance and planned for vaginoplasty.

Keywords: -Küster-Hauser; Mayer; Radiology; Rokitansky; aplasia; obstetrics/gynecology; uterus.

Figure 1.

Axial Pelvic ultrasound images reveal (a) the lack of uterine tissues in the space between the bladder (blue asterisk) and the rectum (orange asterisk), (b) and (c) two normal ovaries (red arrows) in the iliac fossae and (d) fused kidneys in the pelvis.

Figure 2.

Pelvic MRI, Sagittal T2w image (a), axial T2w FS images (b) and (c), coronal T2w image (d), objectifying the lack of the uterus (red asterisk), and upper two-thirds of the vagina (yellow arrow). Each ovary (orange arrow) was in the ipsilateral iliac fossa and exhibited sub-centimetric follicles. Both kidneys (green arrow) are fused in the right iliac fossa, displaying an oval, lobulated appearance consistent with crossed-fused ectopia.